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. Author manuscript; available in PMC: 2022 Sep 6.
Published in final edited form as: J Neurol Sci. 2021 May 29;427:117515. doi: 10.1016/j.jns.2021.117515

Table 3. Single gene disorders implicated in epilepsy.

Condition Genes
Angelman syndrome UBE3A
Aristaless-relaxed homeobox gene (ARX) disorders ARX
Autosomal dominant epilepsy with auditory features LG11
Autosomal dominant juvenile myoclonic epilepsy GABRA1, CACNB4, CLCN2
Autosomal dominant nocturnal frontal lobe epilepsy CHNRA4, CHNRNB2
Benign familial neonatal convulsion KCNQ2, KCNQ3
Benign familial neonatal-infantile seizures SCN2A
Dravet syndrome SCN1A
Early onset absence epilepsy SLC2A1
Generalised epilepsy with febrile seizures plus SCN1A, SCN2A, SCN2B, GABRG2
Hot water reflex epilepsy SLC1A1
Juvenile myoclonic epilepsy type 1 EFHC1
Lafora body disease EMP2A, NHLRC1
Myoclonic epilepsy with ragged-red fibers (MERRF) TK, TL1, TH, TS1
Neurofibromatosis NF1, NF2
Neuronal ceroid-lipofuscinoses / Batten disease CLN3, CLN5, TPP1
Protocadherin-19 (PCDH 19) related epilepsy PCDH-19
Rett syndrome MECP2
Severe myoclonic epilepsy of infancy SCN1A
Sialidosis NEU1, PCDH19
Tuberous sclerosis TSC1, TSC2
Unverricht-Lundborg myoclonus epilepsy CTSB