Genetic Forms of Epilepsy
Support information on page: Developmental Disorders > Metabolic & Genetic Disorders > Identifying the locus
| Epilepsy type | Chromosomal locus ( Gene) |
| Benign familial neonatal convulsions | 20q13.3 (KCNQ2a); 8q24 (KCNQ3a) |
| Childhood absence epilepsy with tonic-clonic seizures | 8q24 (KCNQ3a) |
| Familial adult myoclonic epilepsy | 8q24 (KCNQ3a) |
| Generalized seizures with febrile seizures plus | 19q13.1 (SCN1Bb); (SCN1Ab) |
| Benign familial infantile convulsions syndrome | 19q13.1 (SCN1Bb) |
| X-linked infantile spasms syndrome | Xp11.4-Xpter |
| Febrile seizures | 8q13-21; 19p13.3; 2q23-24; 5q14-15 |
| Idiopathic generalized epilepsy | 3p14.2-12.1 |
| AD infantile convulsions and paroxysmal choreoathetosis | 16p12-11.2 |
| Rolandic epilepsy, paroxysmal exercise-induced dystonia | [nothing here] |
| AD nocturnal frontal lobe epilepsy | 20q13.2 (CHRNA 4c); 10q, 15q24 (CHRNA/CHRNA 5/CHRNB 4) |
| AD lateral temporal epilepsy | 10q |
| Auditory partial epilepsy | 10q22-24 |
| Juvenile myoclonic epilepsy | 6p21.2-11; 15q14 |
| Unverricht-Lundborg type progressive myoclonic epilepsy | 21q22.3 |
| Lafora's disease | 6q23-25 |
| MERRF | mtDNA A8344G |
| Neuronal ceroid-lipofuscinosis | 1p32 (CLN1); 16p22.2 (CLN3); 13q21-32 (CLN5) |
| Progressive epilepsy with mental retardation | 8p |
AD = autosomal dominant (affected gene shown in parentheses)
MERRF = myoclonic epilepsy with ragged red fibers
aVoltage-gated potassium channels
bVoltage-gated sodium channels
cNicotinic acetylcholine receptor alpha4 subunit.
