Names of Genes - Epilepsy categories

Gene Chromosome Location Syndrome
ABAT16p13.2GABA-transaminase deficiency
ACOX117q25.1Peroxisomal acyl-CoA oxidase deficiency
ALDH7A15q23.2Pyridoxine-dependent epilepsy
ARHGEF923q11.1hereditary hyperekplexia
ASAH18p22Spinal muscular atrophy with progressive myoclonic epilepsy
ATP2A212q24.11Darier disease
CACNB42q23.3Juvenile myoclonic epilepsy
CARS213q34Combined oxidative phosphorylation deficiency 27
CDKL523p22.13CDKL5 deficiency disorder
CERS119p13.11progressive myoclonic epilepsy 8
CHRNA28p21.2Autosomal dominant nocturnal frontal lobe epilepsy
CHRNA420q13.33Autosomal dominant nocturnal frontal lobe epilepsy
CHRNB21q21.3Autosomal dominant nocturnal frontal lobe epilepsy
CLCN23q27.1Juvenile myoclonic epilepsy
CNTN21q32.1familial adult myoclonic epilepsy 5
CPA68q13.2familial temporal lobe epilepsy 5
CYP27A12q35cerebrotendinous xanthomatosis
DEPDC522q12.2Familial focal epilepsy with variable foci
EFHC16p12.2Juvenile myoclonic epilepsy
EPM2A6q24.3Lafora progressive myoclonus epilepsy
GABRA15q34Juvenile myoclonic epilepsy
GABRD1p36.33Genetic epilepsy with febrile seizures plus
GABRG25q34Genetic epilepsy with febrile seizures plus
GLRA15q33.1hereditary hyperekplexia
GLRB4q32.1hereditary hyperekplexia
GPHN14q23.3hereditary hyperekplexia
HECW22q32.3Neurodevelopmental disorder with hypotonia seizures and absent language
HNRNPU1q44Epileptic encephalopathy early infantile 54 (EIEE54)
HSD17B1023p11.22HSD10 disease
HSPBAP13q21.1intractable epilepsy
KANSL117q21.13Koolen-de Vries syndrome
KCDT77q11.21progressive myoclonic epilepsy 3
KCNB120q13.13Epileptic encephalopathy early infantile 26
KCNJ101q23.2SeSAME syndrome
KCNQ220q13.33Benign familial neonatal seizures
KCNQ38q24.22Benign familial neonatal seizures
KCNT19q34.3Autosomal dominant nocturnal frontal lobe epilepsy
KDVS17q21.31Koolen-de Vries syndrome
LGI110q23.33Autosomal dominant partial epilepsy with auditory features
MRD556q22.1Mental retardation autosomal dominant 55 with seizures
MT-TF0577Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TF0577-647Myoclonic epilepsy with ragged-red fibers
MT-TH012138Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TH012138-206Myoclonic epilepsy with ragged-red fibers
MT-TK08295Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TK08295-364Myoclonic epilepsy with ragged-red fibers
MT-TL103230-3304Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TL103230-304Myoclonic epilepsy with ragged-red fibers
MT-TP015956Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TP015956Myoclonic epilepsy with ragged-red fibers
MT-TS107446Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TS107446-514Myoclonic epilepsy with ragged-red fibers
MT-TS2012207-65Myoclonic epilepsy with ragged-red fibers
MT-TS2012207Myoclonic epilepsy with ragged-red fibers (MERRF)
MT-TT015888-953Myoclonic epilepsy with ragged-red fibers
NHLRC16p22.3Lafora progressive myoclonus epilepsy
NOTCH319p13.12Cerebral autosomal dominant arteriopathy (CADASIL)
NPRL23p21.31Familial focal epilepsy with variable foci
NPRL316p13.3Familial focal epilepsy with variable foci
NUS16q22.1Mental retardation autosomal dominant 55 with seizures
PHF623q26.2Boerjeson-Forssman-Lehmann syndrome
PLPBP8p11.23Epilepsy early-onset vitamin B6-dependent
POLG15q26.1Myoclonic epilepsy myopathy sensory ataxia
PPT11p34.2CLN1 disease
PRICKLE23p14.1progressive myoclonic epilepsy 5
PURA5q31.3PURA syndrome
PURA5q31.3PURA syndrome
SCARB24q21.1Action myoclonus–renal failure syndrome
SCN1A2q24.3Genetic epilepsy with febrile seizures plus
SCN1B19q13.11Genetic epilepsy with febrile seizures plus
SCN2A2q24.3Genetic epilepsy with febrile seizures plus
SCN8A12q13.13SCN8A-related epilepsy with encephalopathy
SCN9A2q24.3Genetic epilepsy with febrile seizures plus
SERPINI13q26.1Familial encephalopathy with neuroserpin inclusion bodies
SLC6A13p25.3Myoclonic epilepsy with ragged-red fibers (MERRF)
SLC6A511p15.1hereditary hyperekplexia
SNIP11p34.3Psychomotor retardation epilepsy and craniofacial dysmorphism
SPATA54q28.1Epilepsy hearing loss and mental retardation syndrome
SRPX223q22.1Rolandic epilepsy with speech dyspraxia and mental retardation X-linked
ST3GAL52p11.2GM3 synthase deficiency
STRADA17q23.3Polyhydramnios megalencephaly and symptomatic epilepsy
STX1B16p11.2Genetic epilepsy with febrile seizures plus
STXBP19q34.11STXBP1 encephalopathy with epilepsy
WDR4523p11.23beta-propeller protein-associated neurodegeneration


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