Skip to main content
. 2018 Jan;70(1):142–173. doi: 10.1124/pr.117.014456

TABLE 1.

Ion channel genes mutated in epilepsy, functional impact, and available mouse models

Gene
 Protein
 Phenotype
 OMIM Nr
 Functional Impact
 Human Mutation-Based Mouse Models
Voltage-Gated
 SCN1A NaV 1.1 Dravet syndrome; GEFS+ 182389 LOF R1407X (Yu et al., 2006); R1648H (Martin et al., 2010)
 SCN1B NaVβ1 GEFS+, temporal lobe epilepsy, an early infantile epileptic encephalopathy 600235 LOF C121W (Wimmer et al., 2010)
 SCN2A NaV1.2 BFNIE, early-onset epileptic encephalopathies, neurodevelopmental disorders 182390 GOF LOF A263V (Schattling et al., 2016)
 SCN8A Nav1.6 BFIE, epileptic encephalopathy 600702 GOF N1768D (Lopez- Santiago et al., 2017)
 KCNA1 KV1.1 Partial epilepsy and episodic ataxia 176260 LOF V408A (Herson et al., 2003)
 KCNA2 KV1.2 Epileptic encephalopathy 176262 GOF LOF
 KCNB1 KV2.1 Epileptic encephalopathy 600397 LOF
 KCNC1 KV3.1 Progressive myoclonus epilepsy 176258 LOF
 KCNMA1 KCal.1 Epilepsy and paroxysmal dyskinesia 600150 LOF
 KCNQ2 KV7.2 BFNE, epileptic encephalopathy 602235 GOF LOF A306T (Singh et al., 2008)
 KCNQ3 KV7.3 BFNE 602232 GOF LOF G311V (Singh et al., 2008)
 KCNT1 KNal.1 ADNFLE, EIMFS 608167 GOF
 KCTD7 KCTD7 Progressive myoclonus epilepsy 611725 LOF
 HCN1 HCN1 IGE 602780 GOF LOF
 CACNA1A CaV2.1 Epilepsy, episodic ataxia, epileptic encephalopathy 601011 LOF
 CACNA1H CaV3.2 GGE 607904 GOF
Ligand-Gated
 GRIN1 GluNl Epileptic encephalopathy 138249 LOF
 GRIN2A GluN2A Epileptic encephalopathy 138253 GOF LOF
 GRIN2B GluN2B Epileptic encephalopathy 138252 GOF LOF
 GRIN2D GluN2D Epileptic encephalopathy 602717 GOF
 GABRA1 GABRA1 GGE, epileptic encephalopathy 137160 LOF A322D (Arain et al., 2015)
 GABRB3 GABRB3 CAE, epileptic encephalopathy 137192 LOF
 GABRG2 GABRG2 FS/GEFS+, epileptic encephalopathy 137164 LOF R43Q (Tan et al., 2007); Q390X (Kang et al., 2015)
 CHRNA2 CHRNA2 ADNFLE 118502
 CHRNA4 CHRNA4 ADNFLE 118504 GOF S252F (Klaassen et al., 2006); +L264 (Klaassen et al., 2006)
 CHRNB2 CHRNB2 ADNFLE 605375 GOF

BFIE, benign familial infantile epilepsy; BFNIE, benign familial neonatal-infantile epilepsy; EIMFS, epilepsy of infancy with migrating focal seizures; FS, febrile seizures GOF, gain-of-function; LOF, loss-of-function; OMIM, Online Mendelian Inheritance in Man.