Epilepsy-associated genes

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variant inheritance and phenotypes, Genes Brain Behav, 12, 234, 10.1111/gbb.12008 Steinlein, 1995, A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy, Nat Genet, 11, 201, 10.1038/ng1095-201 De Fusco, 2000, The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy, Nat Genet, 26, 275, 10.1038/81566 Aridon, 2006, Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear, Am J Hum Genet, 79, 342, 10.1086/506459 Heron, 2012, Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy, Nat Genet, 44, 1188, 10.1038/ng.2440 Suls, 2013, De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome, Am J Hum Genet, 93, 967, 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SCN1A cause severe myoclonic epilepsy of infancy, Am J Hum Genet, 68, 1327, 10.1086/320609 Ohmori, 2002, Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy, Biochem Biophys Res Commun, 295, 17, 10.1016/S0006-291X(02)00617-4 Poirier, 2010, Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects, Hum Mol Genet, 19, 4462, 10.1093/hmg/ddq377 Yu, 2010, Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture, Nat Genet, 42, 1015, 10.1038/ng.683 Barcia, 2012, De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy, Nat Genet, 44, 1255, 10.1038/ng.2441 Vanoye, 2014, Novel SCN3A variants associated with focal epilepsy in children, Neurobiol Dis, 62, 313, 10.1016/j.nbd.2013.10.015 Chen, 2015, Electrophysiological differences between the same pore region mutation in SCN1A and SCN3A, Mol Neurobiol, 51, 1263, 10.1007/s12035-014-8802-x Dibbens, 2009, The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies, Neurosci Lett, 453, 162, 10.1016/j.neulet.2009.02.038 Hernandez, 2011, The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6beta22 and 6beta2 GABA(A) receptor channel gating and expression, J Physiol, 589, 5857, 10.1113/jphysiol.2011.218883 Veeramah, 2013, Exome sequencing reveals new causal mutations in children with epileptic encephalopathies, Epilepsia, 54, 1270, 10.1111/epi.12201 Yang, 2013, Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state, J Neurosci, 33, 16586, 10.1523/JNEUROSCI.2307-13.2013 Marini, 2011, The genetics of Dravet syndrome, Epilepsia, 52, 24, 10.1111/j.1528-1167.2011.02997.x Singh, 2009, A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome, PLoS Genet, 5, e1000649, 10.1371/journal.pgen.1000649 Liao, 2010, Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1, Epilepsia, 51, 1669, 10.1111/j.1528-1167.2010.02645.x