Table 1

Epilepsy syndromes caused by inherited mutations in ion channel genes

ChannelGeneChannelEpilepsy syndrome(s)
SodiumSCN1Aα subunit of NaV1.1Severe myoclonic epilepsy of infancy (SMEI)
Intractable epilepsy with generalised tonic-clonic seizures (IEGTC)
Migrating partial seizures of infancy (MPSI)
Generalised epilepsy with febrile seizures (GEFS+)
SCN1Bβ subunit of NaV1.1SMEI
SCN2Aα2 subunit of NaV1.2SMEI
Ohtahara syndrome
Benign familial neonatal infantile seizures (BFNIS)
West syndrome
Infantile spasms
SCN3Aα3 of NaV1.3Partial epilepsy
SCN8Aα8 subunit of NaV1.6Infantile epileptic encephalopathy
PotassiumKCNQ2KV7.2Benign familial neonatal convulsions
Infantile encephalopathy
Myokymia associated with neonatal or early infantile epilepsy
KCNQ3KV7.3Benign familial neonatal convulsions
KCNMA1Calcium-activated potassium BK (Big Potassium) channelGeneralised epilepsy with paroxysmal movement disorder
KCNA1KV1.1Epilepsy with episodic ataxia
KCNA2KV1.2Myoclonic epilepsy and ataxia
KCNJIIKir6.2Developmental delay, epilepsy and neonatal diabetes mellitus (DEND syndrome)
KCNT1Sodium-activated potassium channelMPSI
CalciumCACNA1Hα subunit of t-type calcium channelsChildhood absence epilepsy
CACNA1ACaV2.1 channel α subunitEpisodic ataxia and childhood absence epilepsy
Acetylcholine receptor (AChR)CHRNA4, CHRNB2 CHRNA2Subunits of nicotinic AChr receptorAutosomal dominant familial nocturnal frontal lobe epilepsy
GABAGABRA1α subunit of GABA receptorChildhood absence epilepsy
Idiopathic generalised epilepsy (IGE)
Juvenile myoclonic epilepsy (JME)
Infantile spasms, Lennox-Gastaut
GABRB2B2 subunit of the GABA receptorInfantile spasms, Lennox-Gastaut
GABRB3β3 subunit of GABA receptorAbsence epilepsy
Infantile spasms, Lennox-Gastaut
GABRDδ subunit of GABA receptorGEFS+
GABRG2γ2 subunit of GABA receptorGEFS+
Childhood absence epilepsy