Startle epilepsy …

Epilepsy & Seizures

Updated 07.04.2024
Released 02.14.1994
Expires For CME 07.04.2027

Startle epilepsy

Authors: Nicola Specchio MD PhD, Valentina Di Micco MD

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Editor: Solomon L Moshé MD

Startle epilepsy

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Introduction

Overview

Reflex seizures are epileptic events provoked by a specific afferent stimulus or by an activity of the patient. They include idiopathic photosensitive occipital lobe epilepsy, other visual sensitive epilepsies, primary reading epilepsy, and startle epilepsy (24).

Startle seizures are evoked by a sudden and unexpected sensory stimuli that is typically auditory, although somatosensory and visual stimuli may also be a trigger (48).

Most of patients with startle epilepsy present static neurologic and intellectual impairment due to pre- or perinatal insults, with infantile hemiplegia predominating (11). They also occur in the setting of metabolic diseases or genetic conditions such as trisomy 21. However, some neurologically normal individuals with startle epilepsy have also been reported (40).

Startle seizures are typically characterized by an initial startle response followed by axial unilateral or bilateral tonic posturing, frequently causing the patient to fall. Autonomic manifestations, automatisms, laughter, and jerks may occur. Less commonly, startle-induced seizures may be atonic or myoclonic, particularly in patients with cerebral anoxia (59).

Seizures are frequent and sometimes progress to status epilepticus.

Startle epilepsy should be distinguished from other nonepileptic disorders with abnormal responses to startling events, such as hyperekplexia (50).

Startle epilepsy is often resistant to the most common antiseizures medications (28). Epilepsy surgery may be beneficial to those with focal etiology of seizures (30).

Clinical manifestations, etiology (including inborn errors of metabolism), investigative procedures, pathophysiology, and management issues (including neurosurgery) of startle-induced epileptic seizures are included in this chapter.

Key points

	• Startle epilepsy includes seizures evoked by sudden and unexpected stimuli, usually auditory.
	• Typically, most patients have severe neurologic deficits.
	• Startle-induced seizures mainly consist of axial tonic posturing, frequently causing falls.
	• Startle epilepsy should be differentiated from nonepileptic startle-induced movement disorders (such as hyperekplexia).
	• A total control of seizures is rarely achievable; neurosurgery in some patients with focal lesions may be therapeutic.

Historical note and terminology

The 1989 International Classification of Epilepsies and Epileptic Syndromes defines startle-induced epileptic seizures as follows: “Epileptic seizures may also be precipitated by sudden arousal (startle epilepsy); the stimulus is unexpected in nature. The seizures are usually generalized tonic but may be partial and are usually symptomatic” (09).

Startle-induced seizures are not considered in the position reports of the ILAE Commission for Classification and Terminology published in 2017 (19; 52). However, in the ILAE online diagnostic manual of the epilepsies https://epilepsydiagnosis.org, startle epilepsy is recognized and is detailed as shown below (08).

Clinical overview. Startle epilepsy is characterized by seizures that may start in childhood or early adolescence (1 to 16 years). Both sexes are affected. Most patients have underlying structural brain abnormality with neurologic (eg, hemiplegia) and intellectual disability. Seizures are often difficult to control.

Seizure. Seizures are exclusively induced by startle with a sudden brief tonic seizure, typically affecting the trunk and causing a fall. Other seizure types may occur, including atonic and myoclonic seizures. Seizures are typically frequent.

Interictal EEG. Interictal EEG findings reflect the underlying etiology (eg, structural brain abnormality).

Ictal EEG. Ictal EEG shows an initial midline vertex discharge followed by diffuse attenuation or low voltage fast activity (which may have onset or emphasis in areas of structural brain abnormality, and then spread). Ictal EEG may be obscured by myogenic artifact.

Neuroimaging. Neuroimaging is usually abnormal, with acquired or developmental structural brain abnormality, typically involving lateral sensorimotor cortex.

Genetics. Startle epilepsy is usually due to acquired structural brain abnormality and is not inherited; it may occur in children with Down syndrome.

Differential diagnosis.

• Hyperekplexia

Clinical manifestations

Presentation and course

Patients with startle epilepsy are mainly children with long-standing static cerebral lesions and intellectual impairment (49; 55; 60). Typically, startle epilepsy arises in infancy and childhood or early adolescence (5 months to 16 years) and exceptionally in adulthood (45). Both sexes are equally affected (49).

Startle seizures are induced by sudden and unexpected stimuli. Sudden noise is the main triggering stimulus, but somatosensory and, less often, visual stimuli also effectively trigger seizures in some patients. The unexpected nature of the stimulus rather than the sensory modality (ie, sudden noise rather than pure sound) is the distinguishing feature (59).

The seizures usually last less than 30 seconds and consist of a startle response followed by a brief and characteristic tonic phase, which is usually asymmetric. Many subjects fall, and clonic jerks may occur. In hemiparetic patients, the seizure starts with flexion and abduction of the paretic arm and extension of the ipsilateral leg and rapidly involves the contralateral side. Concurrent symptoms, such as marked autonomic manifestations, automatisms, laughter, and jerks may occur. Less commonly, startle-induced seizures may be atonic, tonic-myoclonic, or myoclonic (61), particularly in patients with cerebral anoxia (49; 55; 60).

Seizures are frequent, occurring many times a day.

Prognosis and complications

Startle seizures have a high rate of injury, due to traumatic falls that may occur during the startle induced tonic contraction. Usually only incomplete or temporary seizure control can also be achieved because startle epilepsy typically occurs in patients with severe preexisting encephalopathies. Sometimes, seizures can progress to status epilepticus; therefore, the prognosis is often poor (24). These patients, because of intractable epilepsy due to static neurologic and developmental abnormalities, have significantly increased mortality compared to the general population.

Biological basis

Etiology and pathogenesis

Startle-induced seizures typically occur in patients with structural epilepsy secondary to large static brain lesions, such as perinatal hypoxic injury with congenital hemiparesis, cortical dysplasia, and schizencephaly (29). These lesions could also be related to postnatal causes including central nervous system infection and traumatic brain injury (56).

Startle epilepsies have also been described in certain chromosomal disorders, such as patients with Down syndrome, a peculiar form of Lennox Gastaut syndrome (17), or genetically inherited lysosomal storage diseases (ie, aspartylglucosaminuria, GM1 and GM2 gangliosidosis, and infantile Krabbe disease) (35).

Moreover, startle epilepsy has been associated with peculiar genetically determined conditions. The genetic background is heterogeneous, and multifactorial inheritance is suspected in the majority of cases. Although causative single-gene variants are rarely identified, the number of genes associated with startle epilepsies is gradually increasing. There are many case reports of startle epilepsy associated with KCNQ2 mutations (26), or GNAO1 and NOVA2 genes (34). Also, startle epilepsy has been associated with IL1RAPL1 gene deletion, cri-du-chat syndrome (10; 46), and Schuurs-Hoeijmakers syndrome (47).

The pathophysiology of startle epilepsy is conjectural, and functional neuroimaging studies regarding the pathogenic mechanisms underlying startle epilepsy are scarce.

Fernandez and associates performed one of the most comprehensive studies on startle-induced seizures pathways by using a functional neuroimaging approach in four patients with startle epilepsy (18). The study included ictal-single-photon emission computed tomography/subtraction ictal SPECT co-registered to magnetic resonance imaging (MRI) (SPECT/SISCOM), F18-fluorodeoxyglucose–positron emission computed tomography (FDG-PET), and simultaneous electroencephalography–functional MRI (EEG-fMRI). They highlighted the existence of a complex mesial parieto-frontal network involved in the generation of startle-induced seizures; common regions involved were the SMA, the precuneus, and the primary motor and somatosensory area.

Also, Sandhya and associates reported a prominent fronto-parietal network activation pattern on SPECT and EEG-fMRI in startle myoclonus (51).

Job and colleagues reported three cases in which stereotactic EEG recordings demonstrated the prominent involvement of the supplementary motor area (30). Visual analysis was complemented by time-frequency analysis of stereotactic EEG signals using a neuroimaging approach (epileptogenicity maps). The supplementary motor area showed ictal high frequency oscillations at seizure onset and was included in the surgical resection. All patients became seizure-free after surgery, and histopathological examinations showed no specific lesion. According to the authors, these cases suggest the prominent but not exclusive role of the supplementary motor area in startle seizures and highlight the fact that surgery can be considered even in the absence of any MRI lesion (30).

Differential diagnosis

Startle syndromes consist of three heterogeneous groups of disorders with abnormal responses to startling events (02; 04; 13; 12):

	(1) hyperekplexia
	(2) startle-induced disorders in which startling stimuli can induce responses other than startle reflexes, such as startle-induced epilepsy
	(3) neuropsychiatric startle syndromes in which excessive startling and various additional behavioral features occur

The diagnosis of startle syndromes depends on clinical history, EEG and EMG studies, neuroimaging, and genetic screening.

Hyperekplexia or Kok disease is characterized by an abnormal and excessive startle response to unexpected stimuli. Hyperekplexia can be caused by hereditary mutations in different genes, such as GLRA1 (36; 14), SLC6A5, GLRB, GPHN, and ARHGEF9 (25). It can also be idiopathic (sporadic hyperekplexia, when the excessive startle is not associated with any positive family history, a clear genetic basis, or an established neurologic cause), or acquired (symptomatic hyperekplexia, when excessive startle is associated with an underlying cerebral or brainstem damage) (03). The exaggerated startle in hyperekplexia leads to prolonged stiffening, the consciousness is preserved and, in contrast to startle seizures, the motor response is not followed by any generalized or lateralized tonic activity. In case of hyperekplexia, the drug of choice is clonazepam (50). Hyperekplexia is considered to be benign, but many patients with hyperekplexia have been reported with abnormal development (42; 21).

Reticular and propriospinal myoclonus resemble hyperekplexia, but with some differences. Hyperekplexia is characterized by stimulus sensitivity to the nasium, head, face, upper chest, whereas in reticular myoclonus the sensitivity is over the limbs and in propriospinal myoclonus in the abdominal regions (02). The cortical myoclonus is more prominent in the hands and face, it could be focal or multifocal, it is action-induced, and it shows increased sensitivity to tactile stimuli. Subcortical myoclonus affects bilateral arms; it manifests as a generalized synchronous flexor response, both at rest and on action; and it is commonly sensitive to auditory stimuli. The EMG burst is below 70 msec for both cortical and brainstem myoclonus, but the muscle recruitment spreads cephalocaudal in cortical, bidirectional in hyperekplexia. Back averaging of the EEG activity prior to the startle reaction shows a distinct cortical correlate in cortical myoclonus, which is not seen in hyperekplexia (50).

Hyperekplexia-like episodes have been reported in Coffin-Lowry syndrome, a rare X-linked semi-dominant syndrome characterized by psychomotor and growth retardation and progressive skeletal changes caused by loss of function mutations in the Rps6ka3 gene. Patients present clinically heterogeneous episodes, with some patients exhibiting cataplexy-like events characterized by sudden hypotonia and collapse and others hyperekplexia-like episodes with a startle response (23).

Neuropsychiatric startle syndromes consist of a group of nonhabituating, excessive startle responses followed by a distinct, secondary orientating psychiatric and/or behavioral response such as forced obedience (automatic execution when startled with vigorous commands), violence, humiliation, coprolalia, echolalia, echopraxia, screaming, gesturing, and jumping. They include culture-specific syndromes, anxiety disorders, functional neurologic disorder, tics, and Gilles de la Tourette syndrome (37).

Seizures induced by sudden dousing with hot water may also have a startle component at some time in their course but are not to be confused with startle epilepsy (43). Other focal reflex seizures, produced by localized cutaneous or proprioceptive stimulation, should also be distinguished from startle epilepsy (31).

Management

Startle-induced seizures are highly resistant to medication, and polytherapy is usually prescribed, though a complete seizure control is not usually possible.

Carbamazepine may be effective in patients with focal lesions (07). Clonazepam and clobazam have been useful adjuncts (35). Lamotrigine was found effective in all four patients who received it as add-on treatment (16), and in only three of six patients in another study (27). Levetiracetam add-on was effective in 6 of 10 patients (22). Valproic acid was found to suppress auditory startle response, especially in patients using for a long period and in patients using other antiseizure medications together with valproate (32).

Surgery has been widely reported to control startle epilepsy associated with infantile hemiplegia (05; 41) and, in view of the nature of the seizures and their intractability, should perhaps be considered earlier and for more patients. For example, a case report enhanced the utility of complete callosotomy in a patient with startle epilepsy provoked by acoustic stimuli (57). The great majority of patients show a structural lesion, which can be focal or more frequently affecting the whole hemisphere; in such cases, lesionectomy or hemispherotomy can be considered with success.

Indeed, surgery is recognized as a valid option in patients with medically intractable startle epilepsy who have a well-defined unilateral epileptogenic zone (54; 06), but it has been also acknowledged its role in nonlesional seizures.

In a case report of a the patient with nonlesional startle seizures provoked by auditory, somatosensory, and visual stimuli, seizure freedom was achieved through the resection of the cortex around the left supplementary sensorimotor area only (53). Similarly, three patients in whom MRI was negative and stereotactic EEG recordings demonstrated the prominent involvement of the supplementary motor area were seizure free after surgery (30). Moreover, a case has been reported in which, despite an MRI negative report, stereotactic EEG showed that startle seizures raised from the lateral premotor cortex; this was the basis of a tailored resection with a favorable outcome, thus suggesting that surgery could be considered even with a negative MRI (39). Gomez and colleagues reported a case of a girl suffering with startle-induced seizures since 2 years of age, with a negative MRI, for whom corpus callosotomy was performed with no seizures after one year from surgery (20). There is also a report of postherpetic anti-NMDAR encephalitis following right hemispherotomy in a patient with intractable startle-induced seizures (15).

A rare case of polymicrogyria combined with drug-resistant startle seizures responded well to multiple stereoelectroencephalography-guided radiofrequency thermocoagulations (38). Miro and associates described two adult patients with longstanding frequent startle-induced seizures who responded well to vagus nerve stimulation (44).

A multidisciplinary approach and psychological support are required in all cases with severe epilepsy (58). A noninvasive treatment method using psychoeducational counseling and sound generators was applied in four children, resulting in a seizure frequency reduction of 50% or more in two of them (33).

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Contributors

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

Authors

Nicola Specchio MD PhD

Dr. Specchio of Bambino Gesù Children’s Hospital in Rome, Italy, received an honorarium from Biomarin as a guest speaker.
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Valentina Di Micco MD

Dr. Di Micco of Tor Vergata University and Bambino Gesù Children's Hospital of Rome has no relevant financial relationships to disclose.
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Editor

Solomon L Moshé MD

Dr. Moshé of Albert Einstein College of Medicine has no relevant financial relationships to disclose.
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Former Authors

Benjamin G Zifkin MD
Frederick Andermann MD
C P Panayiotopoulos MD PhD
Jerome Engel Jr MD PhD

Patient Profile

Age range of presentation: 2 to 12 years
Sex preponderance: male=female
Heredity: none
Population groups selectively affected: none selectively affected
Occupation groups selectively affected: none selectively affected

ICD & OMIM codes

ICD-10: Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures: G40.1
ICD-11: Reflex epilepsies: 8A61.40

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Startle epilepsy

Associated Disorders

Anoxic encephalopathy
Cortical dysplasia
Down syndrome
Developmental delay
Infantile hemiplegia
- Retardation
- Schizencephaly

Differential Diagnosis

startle disease
hyperekplexia
other startle disorders
Coffin-Lowry syndrome
touch-evoked seizures
- tap seizures
- seizures induced by hot water
- other reflex seizures

Startle epilepsy …

Startle epilepsy

Introduction

Overview

Key points

Historical note and terminology

Differential diagnosis.

Clinical manifestations

Presentation and course

Prognosis and complications

Biological basis

Etiology and pathogenesis

Epidemiology

Differential diagnosis

Diagnostic workup

Management

Special considerations

Pregnancy

References

Contributors

Authors

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

Startle epilepsy

Introduction

Overview

Key points

Historical note and terminology

Differential diagnosis.

Clinical manifestations

Presentation and course

Prognosis and complications

Biological basis

Etiology and pathogenesis

Epidemiology

Differential diagnosis

Diagnostic workup

Management

Special considerations

Pregnancy

References

Contributors

Authors

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.