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.

I<