Carbamoyl phosphate synthetase 1 deficiency
Feb. 27, 2024
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GLUT1 deficiency syndrome: patient pedigrees
Pedigrees of patients with GLUT1 deficiency syndrome, showing paroxysmal dyskinesia and epilepsy cases. + = normal allele; m = mutated allele. Individuals carrying a heterozygous mutation in SLC2A1 are indicated with +/m. Individuals indicated with +/+ do not carry a mutated allele. Individuals without indication were not available for screening. (Source: Suls et al 2008. Courtesy of Dr. Wim Van Paesschen, Department of Neurology, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. Used with permission.)