Gene |
Chromosome |
Location |
Syndrome |
ABAT | 16 | p13.2 | GABA-transaminase deficiency | |
ACOX1 | 17 | q25.1 | Peroxisomal acyl-CoA oxidase deficiency | |
ALDH7A1 | 5 | q23.2 | Pyridoxine-dependent epilepsy | |
ARHGEF9 | 23 | q11.1 | hereditary hyperekplexia | |
ASAH1 | 8 | p22 | Spinal muscular atrophy with progressive myoclonic epilepsy | |
ATP2A2 | 12 | q24.11 | Darier disease | |
CACNB4 | 2 | q23.3 | Juvenile myoclonic epilepsy | |
CARS2 | 13 | q34 | Combined oxidative phosphorylation deficiency 27 | |
CDKL5 | 23 | p22.13 | CDKL5 deficiency disorder | |
CERS1 | 19 | p13.11 | progressive myoclonic epilepsy 8 | |
CHRNA2 | 8 | p21.2 | Autosomal dominant nocturnal frontal lobe epilepsy | |
CHRNA4 | 20 | q13.33 | Autosomal dominant nocturnal frontal lobe epilepsy | |
CHRNB2 | 1 | q21.3 | Autosomal dominant nocturnal frontal lobe epilepsy | |
CLCN2 | 3 | q27.1 | Juvenile myoclonic epilepsy | |
CNTN2 | 1 | q32.1 | familial adult myoclonic epilepsy 5 | |
CPA6 | 8 | q13.2 | familial temporal lobe epilepsy 5 | |
CYP27A1 | 2 | q35 | cerebrotendinous xanthomatosis | |
DEPDC5 | 22 | q12.2 | Familial focal epilepsy with variable foci | |
EFHC1 | 6 | p12.2 | Juvenile myoclonic epilepsy | |
EPM2A | 6 | q24.3 | Lafora progressive myoclonus epilepsy | |
GABRA1 | 5 | q34 | Juvenile myoclonic epilepsy | |
GABRD | 1 | p36.33 | Genetic epilepsy with febrile seizures plus | |
GABRG2 | 5 | q34 | Genetic epilepsy with febrile seizures plus | |
GLRA1 | 5 | q33.1 | hereditary hyperekplexia | |
GLRB | 4 | q32.1 | hereditary hyperekplexia | |
GPHN | 14 | q23.3 | hereditary hyperekplexia | |
HECW2 | 2 | q32.3 | Neurodevelopmental disorder with hypotonia seizures and absent language | |
HNRNPU | 1 | q44 | Epileptic encephalopathy early infantile 54 (EIEE54) | |
HSD17B10 | 23 | p11.22 | HSD10 disease | |
HSPBAP1 | 3 | q21.1 | intractable epilepsy | |
KANSL1 | 17 | q21.13 | Koolen-de Vries syndrome | |
KCDT7 | 7 | q11.21 | progressive myoclonic epilepsy 3 | |
KCNB1 | 20 | q13.13 | Epileptic encephalopathy early infantile 26 | |
KCNJ10 | 1 | q23.2 | SeSAME syndrome | |
KCNQ2 | 20 | q13.33 | Benign familial neonatal seizures | |
KCNQ3 | 8 | q24.22 | Benign familial neonatal seizures | |
KCNT1 | 9 | q34.3 | Autosomal dominant nocturnal frontal lobe epilepsy | |
KDVS | 17 | q21.31 | Koolen-de Vries syndrome | |
LGI1 | 10 | q23.33 | Autosomal dominant partial epilepsy with auditory features | |
MRD55 | 6 | q22.1 | Mental retardation autosomal dominant 55 with seizures | |
MT-TF | 0 | 577 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TF | 0 | 577-647 | Myoclonic epilepsy with ragged-red fibers | |
MT-TH | 0 | 12138 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TH | 0 | 12138-206 | Myoclonic epilepsy with ragged-red fibers | |
MT-TK | 0 | 8295 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TK | 0 | 8295-364 | Myoclonic epilepsy with ragged-red fibers | |
MT-TL1 | 0 | 3230-3304 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TL1 | 0 | 3230-304 | Myoclonic epilepsy with ragged-red fibers | |
MT-TP | 0 | 15956 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TP | 0 | 15956 | Myoclonic epilepsy with ragged-red fibers | |
MT-TS1 | 0 | 7446 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TS1 | 0 | 7446-514 | Myoclonic epilepsy with ragged-red fibers | |
MT-TS2 | 0 | 12207-65 | Myoclonic epilepsy with ragged-red fibers | |
MT-TS2 | 0 | 12207 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
MT-TT | 0 | 15888-953 | Myoclonic epilepsy with ragged-red fibers | |
NHLRC1 | 6 | p22.3 | Lafora progressive myoclonus epilepsy | |
NOTCH3 | 19 | p13.12 | Cerebral autosomal dominant arteriopathy (CADASIL) | |
NPRL2 | 3 | p21.31 | Familial focal epilepsy with variable foci | |
NPRL3 | 16 | p13.3 | Familial focal epilepsy with variable foci | |
NUS1 | 6 | q22.1 | Mental retardation autosomal dominant 55 with seizures | |
PHF6 | 23 | q26.2 | Boerjeson-Forssman-Lehmann syndrome | |
PLPBP | 8 | p11.23 | Epilepsy early-onset vitamin B6-dependent | |
POLG | 15 | q26.1 | Myoclonic epilepsy myopathy sensory ataxia | |
PPT1 | 1 | p34.2 | CLN1 disease | |
PRICKLE2 | 3 | p14.1 | progressive myoclonic epilepsy 5 | |
PURA | 5 | q31.3 | PURA syndrome | |
PURA | 5 | q31.3 | PURA syndrome | |
SCARB2 | 4 | q21.1 | Action myoclonus–renal failure syndrome | |
SCN1A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | |
SCN1B | 19 | q13.11 | Genetic epilepsy with febrile seizures plus | |
SCN2A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | |
SCN8A | 12 | q13.13 | SCN8A-related epilepsy with encephalopathy | |
SCN9A | 2 | q24.3 | Genetic epilepsy with febrile seizures plus | |
SERPINI1 | 3 | q26.1 | Familial encephalopathy with neuroserpin inclusion bodies | |
SLC6A1 | 3 | p25.3 | Myoclonic epilepsy with ragged-red fibers (MERRF) | |
SLC6A5 | 11 | p15.1 | hereditary hyperekplexia | |
SNIP1 | 1 | p34.3 | Psychomotor retardation epilepsy and craniofacial dysmorphism | |
SPATA5 | 4 | q28.1 | Epilepsy hearing loss and mental retardation syndrome | |
SRPX2 | 23 | q22.1 | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked | |
ST3GAL5 | 2 | p11.2 | GM3 synthase deficiency | |
STRADA | 17 | q23.3 | Polyhydramnios megalencephaly and symptomatic epilepsy | |
STX1B | 16 | p11.2 | Genetic epilepsy with febrile seizures plus | |
STXBP1 | 9 | q34.11 | STXBP1 encephalopathy with epilepsy | |
WDR45 | 23 | p11.23 | beta-propeller protein-associated neurodegeneration | |