Juvenile absence epilepsy …

Jules C Beal MD

Epilepsy & Seizures

Updated 11.20.2023
Released 10.18.1993
Expires For CME 11.20.2026

Juvenile absence epilepsy

Author: Jules C Beal MD

See Contributor Disclosures

Editor: Solomon L Moshé MD

Juvenile absence epilepsy

In This Article

Quick Link

Introduction

Overview

Juvenile absence epilepsy is a genetically determined generalized epilepsy syndrome with a peak onset at 9 to 13 years of age. It manifests with severe and frequent absence seizures. The majority of patients have generalized tonic-clonic seizures as well, and a few also have sporadic myoclonic jerks. EEG shows classical generalized 3 Hz spike-and-slow-wave discharges. Response to appropriate pharmacological treatment is usually excellent, but relapses are common with drug withdrawal. Appropriate antiseizure treatments include sodium valproate, ethosuximide, lamotrigine, and possibly levetiracetam. Other antiseizure medications, such as carbamazepine, eslicarbazepine, lacosamide, oxcarbazepine, phenytoin, tiagabine, and vigabatrin, are contraindicated. In this article, the author details clinical, electroencephalographic, genetic, and management aspects of juvenile absence epilepsy and emphasizes how its differential diagnosis compares with other focal and generalized epileptic syndromes.

Key points

	• Juvenile absence epilepsy is a genetically determined generalized epilepsy characterized by (a) typical absence seizures occurring frequently with significant impairment of consciousness and (b) generalized tonic-clonic seizures. Myoclonic jerks may also occur; these are mild and with no particular circadian distribution.
	• The differential diagnosis includes other syndromes manifesting with absence seizures, such as childhood absence epilepsy, juvenile myoclonic epilepsy, generalized epilepsy with phantom absences, and absence seizures associated with glucose transporter 1 (GLUT-1) deficiency syndrome.
	• Most of the available evidence is inconclusive regarding the evolution and prognosis of juvenile absence epilepsy. The prevailing view is that most patients with juvenile absence epilepsy usually respond well to appropriate pharmacological treatment, but this may need to be lifelong.

Historical note and terminology

The first description of juvenile absence epilepsy was probably by Janz and Christian in 1957, when they categorized patients with non-pyknoleptic absences (43). Doose and associates found that peak age at onset in children with absence seizures congregated into three groups: children 4 to 8 years of age with childhood absence epilepsy (female preponderance); children younger than 4 years of age; and children 10 to 12 years of age (no sex differences) and with cycloleptic (in cycling clusters) absences and frequently generalized tonic-clonic seizures (21).

The Commission on Classification and Terminology of the International League Against Epilepsy (ILAE) proposed in 1981 that typical absences of “idiopathic” generalized epilepsies be differentiated from atypical absences of symptomatic generalized epilepsies (13). However, all epilepsies with typical absence seizures remained for a long time clustered in the group of "petit mal" and were considered a form of "centrencephalic epilepsy." In 1989, the ILAE Commission proposed to distinguish three syndromes of “idiopathic” generalized epilepsy: childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy (14). Subsequently, the ILAE Task Force proposed that juvenile absence epilepsy be classified as a syndrome of adolescence, under the category of “genetic generalized epilepsies” (27; 06). The 2022 position statement from the ILAE Task Force includes juvenile absence epilepsy as one of four idiopathic generalized epilepsies, including childhood absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone, which comprise a subcategory of the genetic generalized epilepsies (39).

Clinical manifestations

Presentation and course

	• The main seizure types include absence seizures, which may occur multiple times per day, as well as generalized tonic-clonic seizures. Myoclonic jerks may occur as well.
	• Typical age of onset is 9 to 13 years of age.
	• Absence status epilepticus may occur.

Frequent typical absences are the characteristic and defining seizures of juvenile absence epilepsy. The usual frequency of absences is approximately 1 to 10 per day, but this may be much higher for some patients (56; 58). They are similar to those of childhood absence epilepsy, although they may be milder. The hallmark of the absence is abrupt, brief impairment of consciousness with total or partial unresponsiveness. Duration of the absences varies from 4 to 30 seconds, but it is usually long (approximately 16 seconds) (27). Mild or inconspicuous impairment of consciousness, such as of phantom absences, is not typical of juvenile absence epilepsy. The ongoing voluntary activity usually stops at onset but may be partly restored during the ictus. Automatisms are frequent, usually occurring 6 to 10 seconds after the onset of the EEG discharge. In juvenile absence epilepsy, mild myoclonic movements of the eyelids may occur during the absence. However, more severe and sustained myoclonic jerks of facial muscles may indicate other generalized epilepsies with absences. Severe eyelid or perioral myoclonus, rhythmic limb-jerking, and single or arrhythmic myoclonic jerks of the head, trunk, or limbs during the absence ictus are not typical of juvenile absence epilepsy. Absence status epilepticus is truly generalized nonconvulsive (without any type of motor manifestation) and may occur in up to one fifth of patients (39).

Generalized tonic-clonic seizures occur in up to 80% to 90% of patients, often after awakening, although nocturnal or diurnal generalized tonic-clonic seizures may also be experienced (21; 77; 56; 49). Generalized tonic-clonic seizures are usually infrequent, but in some cases may become severe and intractable.

Myoclonic jerks have been reported, and when present, they are infrequent, mild, and of random distribution (14; 58). In many cases, the presence of myoclonus would be considered exclusionary (39).

Rarely, patients with juvenile absence epilepsy may present with an uncommon evolution of generalized to focal seizures followed by secondary generalization (double generalization phenomenon) (66; 50).

Seizure-precipitating and facilitating factors. Absence seizures are typically precipitated by hyperventilation in patients with juvenile absence epilepsy. Mental and psychological arousal may also precipitate typical absences. Sleep deprivation, fatigue, alcohol, excitement, and lights alone or usually in combination are the main facilitating factors for generalized tonic-clonic seizures. It has been reported that 8% to 56% of patients with juvenile absence epilepsy suffered from photosensitivity clinically or on EEG (62; 39; 50).

Age and sex at onset. Age at onset is typically 9 to 13 years (70% of the patients), but the range is from 5 to 20 years (56; 58; 03; 39). Myoclonic jerks and generalized tonic-clonic seizures usually begin 1 to 10 years after the onset of absences. Rarely, generalized tonic-clonic seizures may precede the onset of absences. Both sexes are equally affected.

Prognosis and complications

Juvenile absence epilepsy often responds well to appropriate pharmacological treatment. Life-long treatment is necessary in most patients, though the seizures may resolve in a subset of patients (18; 03; 39). Patients who have had generalized tonic-clonic seizures may be less likely to remit compared to those who have had only absence seizures (18; 54; 46). The presence of either focal or generalized interictal discharges are not prognostic of long-term outcome (34).

Cognitive abnormalities and academic problems may be present early at onset of juvenile absence epilepsy (41). Specifically, difficulties with attention, language function, executive function, processing speed, long-term memory, and visuospatial skills have all been reported (61; 09; 20). Individuals with juvenile absence epilepsy are more likely to have below average performance on academic tasks as well as behavior problems (54; 08). They also may be more likely to have anxiety, ADHD, sleep problems, and other psychiatric comorbidities as compared to individuals with other genetic generalized epilepsies (62; 08). Duration and number of prolonged discharges (3 or more seconds) on EEG have been associated with deficits in processing speed and long-term memory (20). Seizure control does not affect these cognitive and neuropsychiatric symptoms (62); however, early age at seizure onset may be associated with worse cognitive abilities (09).

Clinical vignette

An 11-year-old child was referred for frequent (1 to 10 per day), brief periods of unresponsiveness lasting for 10 to 20 seconds. This was described by witnesses as “the eyes glaze or stare, and he is not with it.” There were frequent perioral and limb automatisms, which varied in each absence. An EEG confirmed the diagnosis of absence seizures. These responded only when sodium valproate was combined with ethosuximide. Medication was slowly withdrawn after 3 seizure-free years, but a generalized tonic-clonic seizure occurred half an hour after waking from a short sleep compounded by the excitement of a planned trip. A new video-EEG revealed absences typical of juvenile absence epilepsy. Retrospective evaluation of the first EEG revealed that the ictal EEG manifestations consisted of long, 15- to 22-second, generalized discharges of multiple spike-and-waves at 3.5 Hz, favoring juvenile absence epilepsy.

Reviewed at 37 years of age, the patient was a solicitor and had occasional absences, particularly when excited, despite adequate doses of sodium valproate and ethosuximide. He endorsed occasional mild jerks occurring randomly during the day. Two generalized tonic-clonic seizures had occurred at the age of 18 and 19 years after excessive and unaccustomed alcohol drinking and sleep deprivation in the first and missing medication doses in the second.

Biological basis

	• Juvenile absence epilepsy is thought to have a genetic basis, although the mode of transmission is not well established.
	• Several genetic abnormalities have been identified.
	• Structural changes in the brain have been identified in some patients.

Etiology and pathogenesis

The exact etiology of juvenile absence epilepsy is not well established. A genetic association is thought to be likely, with a complex pattern of inheritance, and several genes have been linked to this syndrome. A family history is occasionally present; typically, family members have a related genetic generalized epilepsy.

The mode of transmission, genes involved, and relation to other forms of genetic generalized epilepsy has not been fully established; a single Mendelian mode appears to be unlikely.

Genetics. There is an increased incidence of epileptic disorders in families of patients with juvenile absence epilepsy, and there are reports of monozygotic twins with the condition (56). Concordance studies in generalized epilepsies have shown that there are independent genetic effects on the type of genetic generalized epilepsy syndrome and the seizure type (76; 47).

Various genetic abnormalities have been identified in patients with juvenile absence epilepsy. Abnormalities have been linked to chromosome 8 (24), 21 (64), 3q26 (65), 18 (23), and probably 5 (23). Specific gene alterations have been reported in ADGRV1, EFHC1, CACNA1A, CACNB4, GRIK1, GABRG2, GABRA1, and CLCN2 (64; 35; 69; 17). An association was also found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (78). Gene expression analysis in untreated patients with childhood and juvenile absence epilepsy demonstrates an inconsistent pattern (75).

Pathology. Autopsy (52) and MRI studies (22) found microdysgenesis and other cerebral structural changes in patients with juvenile absence epilepsy. Specifically, frontal lesions including atypical appearing focal cortical dysplasias and nodular heterotopias have been reported in patients with juvenile absence epilepsy (28). Tondelli and colleagues reported grey matter volume and surface area reduction in the bilateral frontal regions, anterior cingulate, and right mesial-temporal lobe in patients with juvenile absence epilepsy compared to healthy controls. Correlation analysis with disease duration showed that longer disease was correlated with reduced surface area in right pre- and postcentral gyrus. A possible effect of valproate treatment on brain structures was excluded (71).

Another study demonstrated decreased fractional anisotropy and increased mean diffusivity and radial diffusivity values in the genu and the body of the corpus callosum and right anterior corona radiata, as well as decreased axial diffusivity in the left posterior thalamic radiation, inferior cerebellar peduncle, right cerebral peduncle, and right corticospinal tract. There were no significant differences in cortical thickness or deep gray matter structure volumes between patients and controls (15).

Pathophysiology. Variants in the T-type calcium channel gene CACNA1H that alter channel properties have been found in subjects with phenotypes including childhood absence, juvenile absence, juvenile myoclonic and myoclonic astatic epilepsies, as well as febrile seizures and temporal lobe epilepsy. The proposition is that these variants contribute to an individual's seizure susceptibility but are not sufficient to cause epilepsy on their own (38).

In a magnetoencephalography study of five patients with juvenile absence epilepsy, the dynamic statistical parametric mapping of the cortical source distribution of generalized spike-and-slow-wave showed strong medial prefrontal activation in all patients, with activation in the posterior cingulate and precuneus in three of five patients simultaneously or slightly after medial prefrontal activation (63). Furthermore, dynamic statistical parametric mapping showed that the initial activation of a generalized spike-and-wave discharge appears in the focal cortical regions. The authors concluded that cortical regions that constitute a default mode network are strongly involved in the generalized spike-and-wave process in some patients with juvenile absence epilepsy, and focal cortical activation appears at the onset of a generalized spike-and-wave discharge.

An Australian fMRI study of eight patients with juvenile absence epilepsy demonstrated overall fewer and weaker functional connectivity measures compared with healthy controls. Reduced functional connectivity was noted between the medial prefrontal cortex and the occipital cortex whereas there was increased connectivity between the medial prefrontal cortex and thalamus, cerebellum, and hippocampus (59). Another study using fMRI and EEG in 18 patients and 28 healthy controls demonstrated aberrant nodal centrality in the basal ganglia-thalamo-cortical network in patients with juvenile absence epilepsy, as well as aberrations involving excessive stability in the striatal-cortical networks. There was evidence that the hippocampus and caudate may reorganize as epilepsy progresses (79; 80).

Differential diagnosis

Confusing conditions

The diagnosis of juvenile absence epilepsy may be difficult, even by specialists, and may be misdiagnosed as inattention or daydreaming. In practical terms, a patient suspected of typical absences should be asked to hyperventilate for 3 minutes, possibly with video recording for documentation of the clinical features (58).

Childhood absence epilepsy. Severe impairment of consciousness and high daily frequency are the main characteristics of childhood absence epilepsy, but these may also be features of juvenile absence epilepsy. Onset of juvenile absence epilepsy is later (peak at 12 to 13 years), and absences are not as frequent or as severe as in childhood absence epilepsy (26). However, age at onset alone is not an absolute criterion for differentiation between childhood absence epilepsy and juvenile absence epilepsy. There is an overlap with juvenile absence epilepsy starting earlier than, and childhood absence epilepsy starting later than, 10 years of age (42). Further, patients with juvenile absence epilepsy may also have frequent daily absence seizures (56). Generalized tonic-clonic seizures are more typical of juvenile absence epilepsy. EEG features may also be similar, though polyspikes (more than three to four), focal interictal discharges, and the presence of bifrontal or background slowing may favor juvenile absence epilepsy (19; 34). Patients with juvenile absence epilepsy also may have more disorganization of their interictal discharges (25). One study found that the presence of anxiety also correlates with juvenile as opposed to childhood absence epilepsy (19).

Focal epilepsies. The differential diagnosis of juvenile absence epilepsy from focal seizures with impaired cognition can sometimes be difficult on a purely clinical basis. Automatisms may be common in both. Absence seizures tend to be shorter (less than 30 seconds) and occur daily or multiple times per day. Focal seizures may be longer and occur less frequently. EEG will often show generalized spike-wave discharges at a frequency of 3 to 4 Hz both ictally and interictally in absence epilepsy, and focal abnormalities are rare. Focal epilepsy may have a normal interictal EEG or there may be focal abnormalities. Absence seizures from frontal lobe origin may have concomitant, more or less regular, bilateral spike-wave discharges (29). Focal motor components, asymmetrical ictal discharges, or interictal frontal foci in the EEG may help in their differentiation.

Juvenile myoclonic epilepsy. Absence seizures occur in one third of patients with juvenile myoclonic epilepsy, but these are usually mild, often inconspicuous, and have different EEG patterns. The main seizure type of juvenile myoclonic epilepsy is myoclonic jerks on awakening.

Epilepsy with myoclonic absences, eyelid myoclonia with absences, perioral myoclonia with absences. These types of absence seizures are characterized by their predominant ictal myoclonic manifestations that do not consistently feature in juvenile absence epilepsy (58). Eyelid myoclonia or perioral myoclonia with absences have been proposed as epileptic syndromes different from juvenile absence epilepsy (58), but this view is not universally accepted.

Generalized epilepsy with phantom absences. Generalized epilepsy with phantom absences is characterized by a triad of: (1) phantom absences; (2) generalized tonic clonic seizures of late onset; and (3) absence status epilepticus, which occurs in 50% of patients (49). Phantom absences are typical absence seizures with the mildest form of impairment of consciousness. They are so mild that they are inconspicuous to the patient and imperceptible to the observer. On video-EEG, they manifest with interruption, delays or errors of counting, and occasionally with eyelid blinking. Generalized tonic-clonic seizures are usually the first overt clinical manifestation. They are of late onset (adult life), infrequent, and without consistent circadian distribution or specific precipitating factors. About 50% of patients suffer solely from absence status epilepticus of many hours’ duration or prior to generalized tonic-clonic seizures. This is also of mild or moderate severity that sometimes is difficult to recognize as pathological.

Absence seizures associated with glucose transporter-1 (GLUT1) deficiency syndrome. Of clinical importance is the diagnosis of absence seizures associated with GLUT1 deficiency syndrome. Seizures begin between the age of 1 and 4 months in 90% of cases. The frequency and severity of seizures varies among affected individuals. Typical or atypical absences, mainly of early onset, are the most prominent seizure types. Typical absences may imitate various syndromes of genetic generalized epilepsy with absences such as epilepsy with myoclonic absences, childhood absence epilepsy, or juvenile absence epilepsy (68). The ketogenic diet is highly effective in controlling the seizures (48). An early diagnosis and early start of a ketogenic diet may prevent deterioration. Phenobarbital is contraindicated.

Molecular genetic testing for SLC2A, which is the only gene known to be associated with GLUT1 deficiency, is now clinically available. Families with members manifesting various types of genetic generalized epilepsy with absences (early-onset absence seizures, childhood or juvenile absence epilepsy, juvenile myoclonic epilepsy) should be tested for SLC2A1 gene mutations (68).

Diagnostic workup

The EEG, preferably video-EEG, is the most important procedure in diagnosing juvenile absence epilepsy (49). The interictal EEG frequently shows spike- or polyspike-wave discharges over an otherwise normal EEG background. These discharges occur at a frequency of 3 to 4 Hz, sometimes up to 4 to 5 Hz at the onset of the burst; they are slightly faster and often more fragmented and disorganized compared to those seen in childhood absence epilepsy (05; 26). There may be a frontal predominance. Focal epileptiform abnormalities and abortive asymmetrical bursts of spikes or polyspikes are common (44; 34). Rhythmic delta activity over the temporal regions may be seen in a subset of patients (31).

The characteristic ictal EEG during typical absence seizures consists of bilaterally synchronous and symmetrical discharge of rhythmic spike-and-slow wave complexes. These occur at a frequency of 3.5 to 4 Hz, sometimes with a frontal predominance. The frequency at the initial phase of the discharge is usually fast (3 to 5 Hz) with a gradual and smooth decline in frequency from the initial to the terminal phase. These discharges may be more fragmented than in childhood absence epilepsy and they occur in longer runs (05).

In comparison with other syndromes of generalized epilepsy, the density of epileptiform discharges (total duration of epileptiform discharges per hour) and the duration of EEG paroxysms are the highest in juvenile absence epilepsy followed by juvenile myoclonic epilepsy, childhood absence epilepsy, and generalized epilepsy with tonic-clonic seizures only (67).

Brain imaging is typically normal. Cognitive, academic, or behavioral problems may become apparent with neuropsychological testing.

Management

	• Valproate is often considered the first-line treatment for juvenile absence epilepsy as it is beneficial in controlling both absence and generalized tonic-clonic seizures; however, there is a risk of teratogenicity and medication interaction.
	• Other medications such as ethosuximide for absences and lamotrigine or possibly levetiracetam may also be beneficial.
	• Certain medications, including carbamazepine, oxcarbazepine, eslicarbazepine, vigabatrin, and tiagabine may worsen seizure in this condition.

The main antiseizure medications used in this condition are sodium valproate, lamotrigine, ethosuximide, and possibly levetiracetam (73; 58; 32).

Ethosuximide and valproate are equally effective as monotherapy in controlling the absences in more than 80% of patients with typical absence seizures. Valproate also controls generalized tonic-clonic seizures and so is often the treatment of choice in juvenile absence epilepsy. Approximately 82% of patients will become seizure-free with these drugs (77). Valproate is highly associated with teratogenic effects and is often avoided in patients of childbearing potential. The teratogenic effect is dose dependent. Although “safe” doses have not been well established, recommendations have been made in Europe not to exceed a daily dose of 600 to 700 mg per day (70; 11) and in North America not to exceed 750 mg per day (37).

Lamotrigine may be successfully used either as an addition to valproate in uncontrolled patients because of a beneficial pharmacodynamic interaction (58), or as monotherapy, controlling approximately 50% of patients with absence seizures (30; 40). It is likely less effective than valproate and ethosuximide in controlling absence seizures (Glauser et el 2013; 45). However, it may be the preferred choice for juvenile absence epilepsy in women of childbearing potential as it is less teratogenic than valproate and more effective in treating convulsions than ethosuximide (53). In some instances, lamotrigine may worsen myoclonus (16).

Though initially licensed for focal epilepsies, levetiracetam has demonstrated efficacy in primarily generalized tonic-clonic seizures (07), myoclonic jerks (55), and absence seizures (73) and has a relatively safe adverse drug reaction profile in both men and women. However, its efficacy in absence epilepsy is questionable and an aggravating effect was retrospectively found in an unspecified number of children with absence epilepsy from three pediatric neurology departments in France (04).

Clonazepam or clobazam may be effective in treating absence seizures if first-line medications are unsuccessful; these medications have also shown efficacy in treating myoclonic jerks (51). Perampanel has been reported to be effective in generalized tonic clonic, myoclonic, and absence seizures of generalized epilepsies, including juvenile absence epilepsy (74; 12). Add-on zonisamide was found beneficial in a report of 13 patients with pharmacoresistant juvenile absence epilepsy (72). Zonisamide was particularly more efficacious in absences than in generalized tonic clonic seizures. Topiramate, on the other hand, may be of particular efficacy in treating generalized tonic-clonic seizures (12).

Vigabatrin and tiagabine are pro-absence drugs that may precipitate absences and absence status epilepticus. Other antiseizure medications such as carbamazepine, oxcarbazepine, eslicarbazepine, phenytoin, lacosamide, phenobarbital, and gabapentin either may be ineffective or may exacerbate absence seizures (58; 01).

Vagus nerve stimulation has been reported to be beneficial in some patients with medically refractory juvenile absence epilepsy (02). Ketogenic and modified Atkins diets may similarly be beneficial in these patients (33).

Patients should be warned about precipitating factors of generalized tonic-clonic seizures. Treatment may be life-long because attempts to withdraw medication often lead to relapses even after many years free of seizures (58; 60; 36). It may be difficult to regain seizure control after relapse (36).

Outcomes

The seizures in juvenile absence epilepsy frequently respond well to treatment. As many as 80% of patients may become seizure free with medications (77). Factors associated with suboptimal control include absences with clonic components, frequent generalized tonic-clonic seizures, history of absence status epilepticus, developmental delay, spike-wave bursts of more than 5 seconds, asymmetry of spike-waves, persistence of absences beyond 25 years of age, and persistence of absences for more than 12 years (77).

Although the condition may eventually resolve in some, life-long treatment will be necessary for many patients (03). Patients who have had generalized tonic-clonic seizures may be less likely to remit compared to those who have had only absence seizures (18; 54).

Seizure control does not seem to have any effect on the neuropsychiatric comorbidities and psychosocial difficulties commonly associated with this condition (62). Patients with juvenile absence epilepsy are at risk for a number of significant adverse social outcomes that require ongoing advice and counseling (10).

References

01: Abarrategui B, Garcia-Garcia ME, Toledano R, Parejo-Carbonell B, Gil-Nagel A, Garcia-Morales I. Lacosamide for refractory generalized tonic-clonic seizures of non-focal origin in clinical practice: a clinical and VEEG study. Epilepsy Behav Case Rep 2017;8:63-5. PMID 28948142
02: Arya R, Greiner HM, Lewis A, et al. Vagus nerve stimulation for medically refractory absence epilepsy. Seizure 2013;22(4):267-70. PMID 23391567
03: Asadi-Pooya AA, Homayoun M. Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome. Neurol Sci 2020;41(12):3677-82. PMID 32504278
04: Auvin S, Chhun S, Berquin P, Ponchel E, Delanoe C, Chiron C. Aggravation of absence seizure related to levetiracetam. Eur J Paediatr Neurol 2011;15(6):508-11. PMID 21680209
05: Beal JC, Eisermann M, Misra S, et al. Seizures and epilepsy in preterm and term neonates, infants, children and adolescents. In: Niedermeyer's electroencephalography, 7th edition. Schomer DL, Lopes da Silva FH, editors. New York: Oxford University Press, 2018:469-520.
06: Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51(4):676-85. PMID 20196795
07: Berkovic SF, Knowlton RC, Leroy RF, Schiemann J, Falter U. Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy. Neurology 2007;69(18):1751-60. PMID 17625106
08: Boesen MS, Børresen ML, Christensen SK, et al. School performance and psychiatric comorbidity in juvenile absence epilepsy and juvenile myoclonic epilepsy: a Danish population-based cohort study. J Neurol 2022;269(9):4997-5007. PMID 35595971
09: Caciagli L, Ratcliffe C, Xiao F, et al. Cognitive phenotype of juvenile absence epilepsy: an investigation of patients and unaffected siblings. Epilepsia 2023;64(10):2792-805. PMID 37475704
10: Camfield CS, Berg A, Stephani U, Wirrell EC. Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. Epilepsia 2014;55 Suppl 3:16-20. PMID 25209080
11: Campbell E, Kennedy F, Russell A, et al. Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers. J Neurol Neurosurg Psychiatry 2014;85(9):1029-34. PMID 24444855
12: Chu H, Zhang X, Shi J, Zhou Z, Yang X. Antiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis. J Neurol 2023;270(10):4713-28. PMID 37378757
13: Commission of Classification and Terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981;22:489-501. PMID 6790275
14: Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-99. PMID 2502382
15: Correa DG, Ventura N, Zimmermann N, et al. Evaluation of deep gray matter volume, cortical thickness and white matter integrity in patients with typical absence epilepsy: a study using voxelwise-based techniques. Neuroradiology 2017;59(3):237-45. PMID 28083644
16: Crespel A, Genton P, Berramdane M, et al. Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005;65(5):762-4. PMID 16157917
17: Dahawi M, Elmagzoub MS, Ahmed EA, et al. Involvement of ADGRV1 gene in familial forms of genetic generalized epilepsy. Front Neurol 2021;12:738272. PMID 34744978
18: Danhofer P, Brazdil M, Oslejskova H, Kuba R. Long-term seizure outcome in patients with juvenile absence epilepsy; a retrospective study in a tertiary referral center. Seizure 2014;23(6):443-7. PMID 24684814
19: Datta AN, Crawford J, Wallbank L, Wong PKH. Outcome of absence epilepsy with onset at 8-11 years of age: watershed ages when syndromes overlap. J Child Neurol 2023;38(8-9):505-12. PMID 37461321
20: Dharan AL, Bowden SC, Peterson A, et al. A cross-sectional investigation of cognition and epileptiform discharges in juvenile absence epilepsy. Epilepsia 2023;64(3):742-53. PMID 36625418
21: Doose H, Volzke E, Scheffner D. Verlaufsformen kindlicher epilepsien mit spike wave-absencen. Arch Psychiatr Nervenkr 1965;207:394-415. PMID 4960128
22: Duncan JS. Brain imaging in idiopathic generalized epilepsies. Epilepsia 2005;46(Suppl 9):108-11. PMID 16302883
23: Durner M, Keddache MA, Tomasini L, et al. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 2001;49(3):328-35. PMID 11261507
24: Durner M, Zhou G, Fu D, et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. Am J Hum Genet 1999;64(5):1411-9. PMID 10205274
25: Edizer S, Baysal BT, Ünalp A, Yılmaz Ü. Changes in awake and sleep electroencephalography characteristics after 1-year treatment for childhood and juvenile absence epilepsy. Seizure 2023;110:244-52. PMID 37441906
26: Elmali AD, Auvin S, Bast T, Rubboli G, Koutroumanidis M. How to diagnose and classify idiopathic (genetic) generalized epilepsies. Epileptic Disord 2020;22(4):399-420. PMID 32782228
27: Engel J Jr. Report of the ILAE classification core group. Epilepsia 2006;47(9):1558-68. PMID 16981873
28: Fauser S, Cloppenborg T, Polster T, Specht U, Woermann FG, Bien CG. Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. Epilepsia Open 2020;5(2):176-89. PMID 32524043
29: Ferrie CD. Idiopathic generalized epilepsies imitating focal epilepsies. Epilepsia 2005;46(Suppl 9):91-5. PMID 16302881
30: Frank LM, Enlow T, Holmes GL, et al. Lamictal (lamotrigine) monotherapy for typical absence seizures in children. Epilepsia 1999;40(7):973-9. PMID 10403222
31: Gelisse P, Serafini A, Velizarova R, Genton P, Crespel A. Temporal intermittent delta activity: a marker of juvenile absence epilepsy? Seizure 2011;20(1):38-41. PMID 21044851
32: Glauser TA, Cnaan A, Shinnar S, et al. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy: initial monotherapy outcomes at 12 months. Epilepsia 2013;54(1):141-55. PMID 23167925
33: Groomes LB, Pyzik PL, Turner Z, Dorward JL, Goode VH, Kossoff EH. Do patients with absence epilepsy respond to ketogenic diets. J Child Neurol 2011;26(2):160-5. PMID 20647578
34: Harvey S, Thompson C, O'Flaherty O, et al. Relationship between electroencephalography and seizure outcome in typical absence seizures in children. Pediatr Neurol 2023;148:56-64. PMID 37666206
35: Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33(4):527-32. PMID 12612585
36: Healy L, Moran M, Singhal S, O'Donoghue MF, Alzoubidi R, Whitehouse WP. Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy. Seizure 2018;59:116-22. PMID 29807291
37: Hernandez-Diaz S, Smith CR, Shen A, et al. Comparative safety of antiepileptic drugs during pregnancy. Neurology 2012;78(21):1692-99. PMID 22551726
38: Heron SE, Khosravani H, Varela D, et al. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol 2007;62(6):560-8. PMID 17696120
39: Hirsch E, French J, Scheffer IE, et al. ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022;63(6):1475-99. PMID 35503716
40: Holmes GL, Frank LM, Sheth RD, et al. Lamotrigine monotherapy for newly diagnosed typical absence seizures in children. Epilepsy Res 2008;82(2-3):124-32. PMID 18778916
41: Jackson DC, Dabbs K, Walker NM, et al. The neuropsychological and academic substrate of new/recent-onset epilepsies. J Pediatr 2013;162(5):1047-53. PMID 23219245
42: Janz D, Beck-Mannagetta G, Sproder B, Sproder J, Waltz S. Childhood absence epilepsy (pyknolepsy) and juvenile absence epilepsy: one or two syndromes. In: Wolf P, editor. Epileptic Seizures and Syndromes. London: John Libbey & Company Ltd, 1994:115-26.
43: Janz D, Christian W. Impulsiv-petit mal. Zeitschrift f Nervenheilkunde 1957;176:346-86. Translated into English by Genton P. In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, editors. Idiopathic Generalised Epilepsies. London: John Libbey & Company Ltd, 1994:229-51.
44: Japaridze G, Kasradze S, Lomidze G, et al. Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy. Clin Neurophysiol 2016;127(2):1182-7. PMID 26712538
45: Kanner AM, Ashman E, Gloss D, et al. Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: treatment of new-onset epilepsy: report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Epilepsy Curr 2018;18(4):260-8. PMID 30254527
46: Karaoglu P, Tekin HG. Clinical and electrophysiological features predicting response to antiseizure medications in juvenile absence epilepsy. Neuropediatrics 2023;54(1):2-5. PMID 36564022
47: Kinirons P, Rabinowitz D, Gravel M, et al. Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy. Epilepsy Res 2008;82(1):23-30. PMID 18723325
48: Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 2008;49 Suppl 8:46-9. PMID 19049586
49: Koutroumanidis M, Arzimanoglou A, Caraballo R, et al. The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 1). Epileptic Disord 2017;19(3):233-98. PMID 28984246
50: Leon-Ruiz M, Merino-Andreu M, Castañeda-Cabrero C. Juvenile absence epilepsy: integrating photosensitivity and autonomic focal epileptic symptoms. Acta Neurol Belg 2022:1-4. PMID 36301516
51: Mastroianni G, Ascoli M, Gasparini S, et al. Therapeutic approach to difficult-to-treat typical absences and related epilepsy syndromes. Expert Rev Clin Pharmacol 2021;14(11):1427-33. PMID 34289757
52: Meencke HJ, Janz D. The significance of microdysgenesia in primary generalized epilepsy: an answer to the considerations of Lyon and Gastaut. Epilepsia 1985;26(4):368-71. PMID 4006898
53: Mostacci B, Ranzato F, Giuliano L, et al. Alternatives to valproate in girls and women of childbearing potential with idiopathic generalized epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE). Seizure 2021;85:26-38. PMID 33418162
54: Nickels K. Seizure and psychosocial outcomes of childhood and juvenile onset generalized epilepsies: wolf in sheep’s clothing, or well-dressed wolf? Epilepsy Curr 2015;15(3):114-7. PMID 26316843
55: Noachtar S, Andermann E, Meyvisch P, Andermann F, Gough WB, Schiemann-Delgado J. Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology 2008;70(8):607-16. PMID 18285535
56: Obeid T. Clinical and genetic aspects of juvenile absence epilepsy. J Neurol 1994;241(8):487-91. PMID 7964917
57: Osservatorio Regionale per L'Epilessia Lombardy. ILAE classification of epilepsies: its applicability and practical value of different diagnostic categories. Osservatorio Regionale per L'Epilessia (OREp), Lombardy. Epilepsia 1996;37(11):1051-9. PMID 8917054
58: Panayiotopoulos CP. Idiopathic generalised epilepsies. In: Panayiotopoulos CP, editor. A Clinical Guide to Epileptic Syndromes and Their Treatment. Revised 2nd ed. London: Springer, 2010:319-60.
59: Parsons N, Bowden SC, Vogrin S, D'Souza WJ. Single-subject manual independent component analysis and resting state fMRI connectivity outcomes in patients with juvenile absence epilepsy. Magn Reson Imaging 2020;66:42-9. PMID 31734272
60: Pavlovic M, Jovic N, Pekmezovic T. Antiepileptic drugs withdrawal in patients with idiopathic generalized epilepsy. Seizure 2011;20(7):520-5. PMID 21493107
61: Ratcliffe C, Wandschneider B, Baxendale S, Thompson P, Koepp MJ, Caciagli L. Cognitive function in genetic generalized epilepsies: insights from neuropsychology and neuroimaging. Front Neurol 2020;11:144. PMID 32210904
62: Sager G, Vatansever Z, Batu U, Çağ Y, Akin Y. Neuropsychiatric comorbidities in genetic/idiopathic generalized epilepsies and their effects on psychosocial outcomes. Epilepsy Behav 2021;124:108339. PMID 34600282
63: Sakurai K, Takeda Y, Tanaka N, et al. Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy: a MEG study. Epilepsy Res 2010;89(2-3):176-84. PMID 20061122
64: Sander T, Hildmann T, Kretz R, et al. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. Am J Med Genet 1997;74(4):416-21. PMID 9259378
65: Sander T, Schulz H, Saar K, et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 2000b;9(10):1465-72. PMID 10888596
66: San-Juan D, Mayorga AP, Anschel DJ, Avellan AM, Gonzalez-Aragon MF, Cole AJ. The double generalization phenomenon in juvenile absence epilepsy. Epilepsy Behav 2011;21(3):318-20. PMID 21571594
67: Seneviratne U, Hepworth G, Cook M, D'Souza W. Can EEG differentiate among syndromes in genetic generalized epilepsy? J Clin Neurophysiol 2017;34(3):213-21. PMID 27763964
68: Striano P, Weber YG, Toliat MR, et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012;78(8):557-62. PMID 22282645
69: Thakran S, Guin D, Singh P, et al. Genetic landscape of common epilepsies: advancing towards precision in treatment. Int J Mol Sci 2020;21(20):7784. PMID 33096746
70: Tomson T, Battino D, Bonizzoni E, et al. Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry. Lancet Neurol 2011;10(7):609-17. PMID 21652013
71: Tondelli M, Vaudano AE, Ruggieri A, Meletti S. Cortical and subcortical brain alterations in juvenile absence epilepsy. Neuroimage Clin 2016;12:306-11. PMID 27551668
72: Velizarova R, Crespel A, Genton P, Serafini A, Gelisse P. Zonisamide for refractory juvenile absence epilepsy. Epilepsy Res 2014;108(7):1263-6. PMID 24907183
73: Verrotti A, Cerminara C, Domizio S, et al. Levetiracetam in absence epilepsy. Dev Med Child Neurol 2008;50(11):850-3. PMID 18808424
74: Villanueva V, Montoya J, Castillo A, et al. Perampanel in routine clinical use in idiopathic generalized epilepsy: the 12-month GENERAL study. Epilepsia 2018;59(9):1740-52. PMID 30062784
75: von Deimling M, Hasler R, Steinbach V, et al. Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. Epilepsy Res 2017;132:84-90. PMID 28324682
76: Winawer MR, Marini C, Grinton BE, et al. Familial clustering of seizure types within the idiopathic generalized epilepsies. Neurology 2005;65(4):523-8. PMID 16116110
77: Wolf P, Inoue Y. Therapeutic response of absence seizures in patients of an epilepsy clinic for adolescents and adults. J Neurol 1984;231(4):225-9. PMID 6439834
78: Yalcin O, Baykan B, Agan K, Yapici Z, et al. An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures. Epilepsia 2011;52(5):975-83. PMID 25591652
79: Zhang T, Zhang Y, Ren J, et al. Aberrant basal ganglia-thalamo-cortical network topology in juvenile absence epilepsy: a resting-state EEG-fMRI study. Seizure 2021;84:78-83. PMID 33307464
80: Zhang T, Zhang Y, Ren J, et al. Dynamic alterations of striatal-related functional networks in juvenile absence epilepsy. Epilepsy Behav 2023;149:109506. PMID 37925871

Contributors

All contributors' financial relationships have been reviewed and mitigated to ensure that this and every other article is free from commercial bias.

Author

Jules C Beal MD

Dr. Beal of Weill Cornell Medicine and New York-Presbyterian Queens Hospital has no relevant financial relationships to disclose.
See Profile

Editor

Solomon L Moshé MD

Dr. Moshé of Albert Einstein College of Medicine has no relevant financial relationships to disclose.
See Profile

Former Authors

Jerome Engel Jr MD PhD (original author), Peter Wolf MD, and C P Panayiotopoulos MD PhD

Patient Profile

Age range of presentation: 6 to 44 years
Sex preponderance: male=female
Heredity: heredity may be a factor
Population groups selectively affected: none selectively affected
Occupation groups selectively affected: none selectively affected

ICD & OMIM codes

ICD-9: Juvenile absence epilepsy: 345.0
ICD-10: Juvenile absence epilepsy: G40.3
OMIM: Juvenile absence epilepsy: #607631

This is an article preview.
Start a Free Account
to access the full version.

Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.

Questions or Comment?

MedLink®, LLC

3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660

Support: service@medlink.com

Editor: editor@medlink.com

ISSN: 2831-9125

Juvenile absence epilepsy

Associated Disorders

Childhood absence epilepsy
Epilepsy with grand mal seizures on awaking
Epilepsy with myoclonic absences
Juvenile myoclonic epilepsy
Typical absences

Differential Diagnosis

childhood absence epilepsy
juvenile myoclonic epilepsy
complex focal seizures of frontal and temporal lobe origin
symptomatic absence seizures
other idiopathic generalized epilepsies with absence seizures
- atypical absences

Also Relevant

Childhood absence epilepsy
Epilepsy with generalized tonic-clonic seizures alone
Epilepsy with myoclonic absences
Eyelid myoclonia
Generalized onset tonic-clonic seizures
- Juvenile myoclonic epilepsy
- Typical absences

Juvenile absence epilepsy …

Juvenile absence epilepsy

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Outcomes

Special considerations

Pregnancy

References

Contributors

Author

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview.
Start a Free Account
to access the full version.

Questions or Comment?

Also in This Category

Photosensitive occipital lobe epilepsy

Intermittent explosive disorder

Pyridoxine/P5P-dependent developmental epileptic encephalopathy

Reflex seizures

Anti-LGI1 encephalitis

Self-limited (familial) neonatal epilepsy

Epilepsy with auditory features

Alcohol withdrawal seizures

Juvenile absence epilepsy

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Diagnostic workup

Management

Outcomes

Special considerations

Pregnancy

References

Contributors

Author

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview. Start a Free Account to access the full version.

Questions or Comment?

Also in This Category

Photosensitive occipital lobe epilepsy

Intermittent explosive disorder

Pyridoxine/P5P-dependent developmental epileptic encephalopathy

Reflex seizures

Anti-LGI1 encephalitis

Self-limited (familial) neonatal epilepsy

Epilepsy with auditory features

Alcohol withdrawal seizures

This is an article preview.
Start a Free Account
to access the full version.