Genetics of human epilepsies
•Primary
generalized syndromes
•Benign
familial neonatal convulsions – K channels (KCNQ2, KCNQ3)
•Progressive
myoclonic epilepsy – Unverricht-Lundborg – Cystatin B
•Absence
seizures – GABA(A) receptor subunits
•Partial
epilepsy syndromes
•Autosomal
dominant nocturnal frontal lobe epilepsy – Subunit of nicotinic acetylcholine receptor (CHRNA4 - alpha4 subunit)
•Febrile
seizures plus (FEBS+) - Subunits of Na channel
•Several others
recently identified