The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy

References

• Buono RJ. Genome wide association studies (GWAS) and common forms of human epilepsy. Epilepsy Behav 2013;28(Suppl 1):S63-5
   Google Scholar
• Kasperaviciute D, Catarino CB, Matarin M, et al. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013;136(Pt 10):3140-50
   Google Scholar
• Kumari R, Lakhan R, Kumar S, et al. SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness. Biochimie 2013;95(6):1350-3
   PubMed Web of Science ®Google Scholar
• Makoff A, Lai T, Barratt C, et al. High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy. Epilepsia 2010;51(4):694-8
   PubMed Web of Science ®Google Scholar
• Porter RJ, Dhir A, Macdonald RL, Rogawski MA. Mechanisms of action of antiseizure drugs. Handb Clin Neurol 2012;108:663-81
   PubMedGoogle Scholar
• Carvill GL, Mefford HC. Microdeletion syndromes. Curr Opin Genet Dev 2013;23(3):232-9
   Google Scholar
• Mefford HC, Muhle H, Ostertag P, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010;6(5):e1000962
   PubMed Web of Science ®Google Scholar
• Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409(6822):928-33
   PubMed Web of Science ®Google Scholar
• International HapMap Consortium. The International HapMap Project. Nature 2003;426(6968):789-96
   PubMed Web of Science ®Google Scholar
• Steffens M, Leu C, Ruppert AK, et al. EPICURE Consortium; EMINet Consortium. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012;21(24):5359-72
   PubMedGoogle Scholar
• Guo Y, Baum LW, Sham PC, et al. Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum Mol Genet 2012;21(5):1184-9
   Google Scholar
• Kasperaviciūte D, Catarino CB, Heinzen EL, et al. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010;133(Pt 7):2136-47
   Google Scholar
• Prasad A, Merico D, Thiruvahindrapuram B, et al. A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) 2012;2(12):1665-85
   Google Scholar
• Klassen T, Davis C, Goldman A, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011;145(7):1036-48
   PubMed Web of Science ®Google Scholar
• Guven A, Tolun A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 2013;50(3):199-202
   Google Scholar
• Heinzen EL, Depondt C, Cavalleri GL, et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012;91(2):293-302
   PubMedGoogle Scholar
• Allen AS, Berkovic SF, Cossette P, et al. Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013;501(7466):217-21
   PubMed Web of Science ®Google Scholar
• Touma M, Joshi M, Connolly MC, et al. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia 2013;54(5):e81-5
   PubMed Web of Science ®Google Scholar
• Goldin AL. Resurgence of sodium channel research. Annu Rev Physiol 2001;63:871-94
   PubMed Web of Science ®Google Scholar
• Teper Y, Whyte D, Cahir E, et al. Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. J Neurosci 2007;27(38):10128-42
   Google Scholar
• Hu BY, Weick JP, Yu J, et al. Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency. Proc Natl Acad Sci USA 2010;107(9):4335-40
   PubMed Web of Science ®Google Scholar
• Liu Y, Lopez-Santiago LF, Yuan Y, et al. Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann Neurol 2013;74(1):128-39
   PubMed Web of Science ®Google Scholar
• Oliva M, Berkovic SF, Petrou S. Sodium channels and the neurobiology of epilepsy. Epilepsia 2012;53(11):1849-59
   PubMed Web of Science ®Google Scholar
• Escayg A, Goldin AL. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia 2010;51(9):1650-8
   PubMed Web of Science ®Google Scholar
• Winden KD, Oldham MC, Mirnics K, et al. The organization of the transcriptional network in specific neuronal classes. Mol Syst Biol 2009;5:291
   Google Scholar
• Saint-Martin C, Gauvain G, Teodorescu G, et al. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 2009;30(3):397-405
   Google Scholar
• Kleefuss-Lie A, Friedl W, Cichon S, et al. CLCN2 variants in idiopathic generalized epilepsy. Nat Genet 2009;41(9):954-5
   Google Scholar
• Niemeyer MI, Cid LP, Sepulveda FV, et al. No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. Nat Genet 2010;42(1):3
   Google Scholar
• Sander T, Schulz H, Saar K, et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 2000;9(10):1465-72
   Google Scholar
• D'Agostino D, Bertelli M, Gallo S, et al. Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology 2004;63(8):1500-2
   Google Scholar
• Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18(2):188-91
   PubMed Web of Science ®Google Scholar
• De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 2013;22(10):803-11
   PubMed Web of Science ®Google Scholar
• Mullen SA, Marini C, Suls A, et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 2011;68(9):1152-5
   PubMedGoogle Scholar
• Lutas A, Yellen G. The ketogenic diet: metabolic influences on brain excitability and epilepsy. Trends Neurosci 2013;36(1):32-40
   PubMed Web of Science ®Google Scholar
• Rauchenzauner M, Klepper J, Leiendecker B, et al. The ketogenic diet in children with Glut1 deficiency syndrome and epilepsy. J Pediatr 2008;153(5):716-18
   Google Scholar
• Haberlandt E, Karall D, Jud V, et al. Glucose transporter type 1 deficiency syndrome effectively treated with modified atkins diet. Neuropediatrics 2013. [Epub ahead of print]
   Google Scholar
• Yun C, Xuefeng W. Association between seizures and diabetes mellitus: a comprehensive review of literature. Curr Diabetes Rev 2013;9(4):350-4
   Google Scholar
• Varlamis S, Vavatsi N, Pavlou E, et al. Evaluation of oral glucose tolerance test in children with epilepsy. J Child Neurol 2013;28(11):1437-42
   Google Scholar
• Marin-Valencia I, Good LB, Ma Q, et al. Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. J Cereb Blood Flow Metab 2013;33(2):175-82
   Google Scholar
• Ottman R, Winawer MR, Kalachikov S, et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004;62(7):1120-6
   Google Scholar
• Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004;36(8):842-9
   PubMedGoogle Scholar
• Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51(4):676-85
   PubMed Web of Science ®Google Scholar
• Gallentine WB, Mikati MA. Genetic generalized epilepsies. J Clin Neurophysiol 2012;29(5):408-19
   PubMed Web of Science ®Google Scholar
• Salzmann A, Malafosse A. Genetics of temporal lobe epilepsy: a review. Epilepsy Res Treat 2012;2012:863702
   Google Scholar
• Williams CA, Battaglia A. Molecular biology of epilepsy genes. Exp Neurol 2013;244:51-8
   Google Scholar
• Medina MT, Suzuki T, Alonso ME, et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 2008;70(22 Pt 2):2137-44
   PubMedGoogle Scholar
• Epigad. Available from: www.epigad.org/
   Google Scholar
• Buono RJ, Lohoff FW, Sander T, et al. Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res 2004;58(2-3):175-83
   PubMed Web of Science ®Google Scholar
• Lenzen KP, Heils A, Lorenz S, et al. Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res 2005;63(2-3):113-18
   Google Scholar
• Heuser K, Nagelhus EA, Taubøll E, et al. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. Epilepsy Res 2010;88(1):55-64
   PubMed Web of Science ®Google Scholar
• Scholl UI, Choi M, Liu T, et al. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci USA 2009;106(14):5842-7
   Google Scholar
• Bockenhauer D, Feather S, Stanescu HC, et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 2009;360(19):1960-70
   PubMed Web of Science ®Google Scholar
• Tan NC, Mulley JC, Berkovic SF. Genetic association studies in epilepsy: “the truth is out there”. Epilepsia 2004;45(11):1429-42
   PubMed Web of Science ®Google Scholar
• Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18(1):25-9
   PubMed Web of Science ®Google Scholar
• Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18(1):53-5
   PubMed Web of Science ®Google Scholar
• Gunthorpe MJ, Large CH, Sankar R. The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy. Epilepsia 2012;53(3):412-24
   PubMed Web of Science ®Google Scholar
• Hahn A, Neubauer BA. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. Brain Dev 2009;31(7):515-20
   Google Scholar
• Dibbens LM, Reid CA, Hodgson B, et al. Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann Neurol 2010;67(4):542-6
   Google Scholar
• Postea O, Biel M. Exploring HCN channels as novel drug targets. Nat Rev Drug Discov 2011;10(12):903-14
   Google Scholar
• Yu N, Liu H, Di Q. Modulation of immunity and the inflammatory response: a new target for treating drug-resistant epilepsy. Curr Neuropharmacol 2013;11(1):114-27
   Google Scholar
• Wang CC, Chen PS, Hsu CW, et al. Valproic acid mediates the synaptic excitatory/inhibitory balance through astrocytes – a preliminary study. Prog Neuropsychopharmacol Biol Psychiatry 2012;37(1):111-20
   PubMed Web of Science ®Google Scholar
• Karr L, Rutecki PA. Activity-dependent induction and maintenance of epileptiform activity produced by group I metabotropic glutamate receptors in the rat hippocampal slice. Epilepsy Res 2008;81(1):14-23
   Google Scholar
• Kang HC, Lee YM, Kim HD. Mitochondrial disease and epilepsy. Brain Dev 2013;35(8):757-61
   Google Scholar
• Girard JM, Turnbull J, Ramachandran N, et al. Progressive myoclonus epilepsy. Handb Clin Neurol 2013;113:1731-6
   PubMedGoogle Scholar
• Galanopoulou AS, Gorter JA, Cepeda C. Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target. Epilepsia 2012;53(7):1119-30
   PubMed Web of Science ®Google Scholar
• Jacobs MP, Leblanc GG, Brooks-Kayal A, et al. Curing epilepsy: progress and future directions. Epilepsy Behav 2009;14(3):438-45
   Google Scholar
• Milh M, Falace A, Villeneuve N, et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat 2013;34(6):869-72
   Google Scholar
• Förstera B, Belaidi AA, Jüttner R, et al. Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy. Brain 2010;133(Pt 12):3778-94
   Google Scholar
• Evers MM, Pepers BA, van Deutekom JC, et al. Targeting several CAG expansion diseases by a single antisense oligonucleotide. PLoS One 2011;6(9):e24308
   Google Scholar
• Paciorkowski AR, Shafrir Y, Hrivnak J, et al. Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology 2011;77(11):1055-60
   Google Scholar
• Lalioti MD, Mirotsou M, Buresi C, et al. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 1997;60(2):342-51
   Google Scholar
• Biervert C, Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999;104(3):234-40
   Google Scholar
• McArdle EJ, Kunic JD, George AL Jr. Novel SCN1A frameshift mutation with absence of truncated Na(v)1.1 protein in severe myoclonic epilepsy of infancy. Am J Med Genet 2008;146A(18):2421-3
   Google Scholar
• Yang C, Feng J, Song W, et al. A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin. Proc Natl Acad Sci USA 2007;104(39):15394-9
   Google Scholar
• Mendell JT, Sharifi NA, Meyers JL, et al. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet 2004;36(10):1073-8
   PubMed Web of Science ®Google Scholar
• Huang X, Tian M, Hernandez CC, et al. The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. Neurobiol Dis 2012;48(1):115-23
   PubMed Web of Science ®Google Scholar
• Chang JC, Liu KH, Li YC, et al. Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery. Neurosignals 2013;21(3-4):160-73
   Google Scholar
• Wang G, Shimada E, Zhang J, et al. Correcting human mitochondrial mutations with targeted RNA import. Proc Natl Acad Sci USA 2012;109(13):4840-5
   PubMed Web of Science ®Google Scholar
• Oakley JC, Cho AR, Cheah CS, et al. Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome. J Pharmacol Exp Ther 2013;345(2):215-24
   Google Scholar
• Kearney JA, Yang Y, Beyer B, et al. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum Mol Genet 2006;15(6):1043-8
   Google Scholar
• Glasscock E, Qian J, Yoo JW, et al. Masking epilepsy by combining two epilepsy genes. Nat Neurosci 2007;10(12):1554-8
   PubMed Web of Science ®Google Scholar
• Online Mendelian Inheritance in Man®. Available from: www.omim.org/
   Google Scholar
• Chioza B, Wilkie H, Nashef L, et al. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 2001;56(9):1245-6
   Google Scholar
• Chan YC, Burgunder JM, Wilder-Smith E, et al. Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. J Clin Neurosci 2008;15(8):891-4
   Google Scholar
• Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66(5):1531-9
   PubMedGoogle Scholar
• Ohmori I, Ouchida M, Miki T, et al. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiol Dis 2008;32(3):349-54
   PubMedGoogle Scholar
• Kapoor A, Satishchandra P, Ratnapriya R, et al. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol 2008;64(2):158-67
   PubMedGoogle Scholar
• Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11(2):201-3
   PubMedGoogle Scholar
• Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68(1):225-31
   PubMed Web of Science ®Google Scholar
• Everett K, Chioza B, Aicardi J, et al. Linkage and mutational analysis of CLCN2 in childhood absence epilepsy. Epilepsy Res 2007;75(2-3):145-53
   Google Scholar
• Salzmann A, Guipponi M, Lyons PJ, et al. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Hum Mutat 2012;33(1):124-35
   Google Scholar
• Sapio MR, Salzmann A, Vessaz M, et al. Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. J Biol Chem 2012;287(51):42900-9
   Google Scholar
• Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013;45(5):546-51
   PubMed Web of Science ®Google Scholar
• Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet 2013;45(5):552-5
   PubMed Web of Science ®Google Scholar
• Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31(2):184-9
   PubMed Web of Science ®Google Scholar
• Maljevic S, Krampfl K, Cobilanschi J, et al. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol 2006;59(6):983-7
   Google Scholar
• Feucht M, Fuchs K, Pichlbauer E, et al. Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol Psychiatry 1999;46(7):997-1002
   Google Scholar
• Tanaka M, Olsen RW, Medina MT, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 2008;82(6):1249-61
   Google Scholar
• Dibbens LM, Feng HJ, Richards MC, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 2004;13(13):1315-19
   PubMed Web of Science ®Google Scholar
• Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28(1):46-8
   PubMed Web of Science ®Google Scholar
• Wallace RH, Marini C, Petrou S, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28(1):49-52
   PubMed Web of Science ®Google Scholar
• Balan S, Sathyan S, Radha SK, et al. GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. Pharmacogenet Genomics 2013;23(11):605-10
   PubMed Web of Science ®Google Scholar
• Nakayama J, Fu YH, Clark AM, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol 2002;52(5):654-7
   PubMedGoogle Scholar
• Neubauer BA, Waldegger S, Heinzinger J, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 2008;71(3):177-83
   Google Scholar
• Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30(3):335-41
   PubMed Web of Science ®Google Scholar
• Jiang Y, Zhang Y, Zhang P, et al. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet 2012;131(7):1217-24
   Google Scholar
• Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90(1):152-60
   PubMed Web of Science ®Google Scholar
• Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24(4):343-5
   PubMed Web of Science ®Google Scholar
• Colosimo E, Gambardella A, Mantegazza M, et al. Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. Epilepsia 2007;48(9):1691-6
   Google Scholar
• Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19(4):366-70
   PubMed Web of Science ®Google Scholar
• Scheffer IE, Harkin LA, Grinton BE, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007;130(Pt 1):100-9
   PubMedGoogle Scholar
• Striano P, Bordo L, Lispi ML, et al. A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia 2006;47(1):218-20
   PubMedGoogle Scholar
• Holland KD, Kearney JA, Glauser TA, et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett 2008;433(1):65-70
   PubMed Web of Science ®Google Scholar
• Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet 2009;5(9):e1000649
   PubMed Web of Science ®Google Scholar
• Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009;66(3):415-19
   PubMed Web of Science ®Google Scholar
• Kato T, Tamiya G, Koyama S, et al. UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family. ISRN Neurol 2012;2012:508308
   Google Scholar
• Schenkel LC, Bragatti JA, Torres CM, et al. Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy. Epilepsy Res 2011;95(1-2):152-7
   Google Scholar
• Kauffman MA, Consalvo D, Gonzalez-Morón D, et al. Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis. Epilepsy Res 2009;85(2-3):231-4
   Google Scholar
• Diaz-Arrastia R, Gong Y, Fair S, et al. Increased risk of late posttraumatic seizures associated with inheritance of APOE epsilon4 allele. Arch Neurol 2003;60(6):818-22
   PubMedGoogle Scholar
• Briellmann RS, Torn-Broers Y, Busuttil BE, et al. APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy. Neurology 2000;55(3):435-7
   PubMed Web of Science ®Google Scholar
• Kanemoto K, Kawasaki J, Tarao Y, et al. Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms. Epilepsy Res 2003;53(3):255-8
   PubMed Web of Science ®Google Scholar
• Nectoux J, Bahi-Buisson N, Guellec I, et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008;70(22 Pt 2):2145-51
   PubMed Web of Science ®Google Scholar
• Pal DK, Evgrafov OV, Tabares P, et al. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 2003;73(2):261-70
   PubMedGoogle Scholar
• Lorenz S, Taylor KP, Gehrmann A, et al. Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett 2006;400(1-2):135-9
   Google Scholar
• Singh B, Monteil A, Bidaud I, et al. Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat 2007;28(5):524-5
   Google Scholar
• Chen Y, Lu J, Pan H, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2003;54(2):239-43
   PubMed Web of Science ®Google Scholar
• Heron SE, Khosravani H, Varela D, et al. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol 2007;62(6):560-8
   PubMed Web of Science ®Google Scholar
• Robinson R, Taske N, Sander T, et al. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res 2002;48(3):169-79
   Google Scholar
• Everett KV, Chioza B, Aicardi J, et al. Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet 2007;15(4):463-72
   Google Scholar
• Steinlein O, Sander T, Stoodt J, et al. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. Am J Med Genet 1997;74(4):445-9
   Google Scholar
• Chou IC, Lee CC, Huang CC, et al. Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. Epilepsia 2003;44(8):1089-93
   Google Scholar
• Mas C, Taske N, Deutsch S, et al. Association of the connexin36 gene with juvenile myoclonic epilepsy. J Med Genet 2004;41(7):e93
   Google Scholar
• Hempelmann A, Heils A, Sander T. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. Epilepsy Res 2006;71(2-3):223-8
   Google Scholar
• Wang X, Sun W, Zhu X, et al. Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population. Epilepsy Res 2008;81(2-3):198-203
   Google Scholar
• Xi B, Chen J, Yang L, et al. GABBR1 gene polymorphism(G1465A) is associated with temporal lobe epilepsy. Epilepsy Res 2011;96(1-2):58-63
   Google Scholar
• Pernhorst K, Raabe A, Niehusmann P, et al. Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi. J Neuropathol Exp Neurol 2011;70(12):1080-8
   Google Scholar
• Lü JJ, Zhang YH, Pan H, et al. Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy. Chin Med J (Engl) 2004;117(10):1497-501
   Google Scholar
• Chou IC, Lee CC, Tsai CH, et al. Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. Pediatr Neurol 2007;36(1):40-4
   Google Scholar
• Tang B, Sander T, Craven KB, et al. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. Neurobiol Dis 2008;29(1):59-70
   PubMed Web of Science ®Google Scholar
• Ishizaki Y, Kira R, Fukuda M, et al. Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies. Epilepsia 2009;50(4):761-7
   Google Scholar
• Wu ZQ, Sun L, Sun YH, et al. Interleukin 1 beta -511 C/T gene polymorphism and susceptibility to febrile seizures: a meta-analysis. Mol Biol Rep 2012;39(5):5401-7
   PubMed Web of Science ®Google Scholar
• Chou IC, Lin WD, Wang CH, et al. Interleukin (IL)-1beta, IL-1 receptor antagonist, IL-6, IL-8, IL-10, and tumor necrosis factor alpha gene polymorphisms in patients with febrile seizures. J Clin Lab Anal 2010;24(3):154-9
   PubMed Web of Science ®Google Scholar
• Serdaroğlu G, Alpman A, Tosun A, et al. Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms. Pediatr Neurol 2009;40(2):113-16
   Google Scholar
• Chioza B, Osei-Lah A, Wilkie H, et al. Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Res 2002;52(2):107-16
   Google Scholar
• Vijai J, Kapoor A, Ravishankar HM, et al. Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. Hum Genet 2003;113(5):461-3
   Google Scholar
• Stögmann E, Zimprich A, Baumgartner C, et al. A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy. Ann Neurol 2002;51(2):260-3
   Google Scholar
• Bovo G, Diani E, Bisulli F, et al. Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. Neurosci Lett 2008;436(1):23-6
   PubMed Web of Science ®Google Scholar
• Labate A, Manna I, Gambardella A, et al. Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women. Neurosci Lett 2007;421(1):1-4
   Google Scholar
• Arsov T, Mullen SA, Rogers S, et al. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 2012;72(5):807-15
   PubMed Web of Science ®Google Scholar
• Vauthier V, Jaillard S, Journel H, et al. Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy. Mol Genet Metab 2012;106(3):345-50
   Google Scholar
• Karkheiran S, Krebs CE, Makarov V, et al. Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Hum Genet 2013;132(3):275-83
   Google Scholar
• Cukier HN, Lee JM, Ma D, et al. The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res 2012;5(6):385-97
   PubMed Web of Science ®Google Scholar
• Veeramah KR, Johnstone L, Karafet TM, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013;54(7):1270-81
   PubMed Web of Science ®Google Scholar
• Zwaveling-Soonawala N, Hagebeuk EE, Slingerland AS, et al. Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation. Diabetologia 2011;54(2):469-71
   Web of Science ®Google Scholar
• Stockhammer F, Misch M, Helms HJ, et al. IDH1/2 mutations in WHO grade II astrocytomas associated with localization and seizure as the initial symptom. Seizure 2012;21(3):194-7
   PubMed Web of Science ®Google Scholar
• Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44(8):941-5
   PubMed Web of Science ®Google Scholar
• Backx L, Ceulemans B, Vermeesch JR, et al. Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet 2009;17(3):378-82
   Google Scholar
• Thierry G, Bénéteau C, Pichon O, et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A 2012;158A(7):1633-40
   PubMed Web of Science ®Google Scholar
• Lionel AC, Vaags AK, Sato D, et al. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet 2013;22(10):2055-66
   PubMed Web of Science ®Google Scholar
• Orlova KA, Parker WE, Heuer GG, et al. STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. J Clin Invest 2010;120(5):1591-602
   PubMed Web of Science ®Google Scholar
• Koyama S, Kawanami T, Tanji H, et al. A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. Clin Neurol Neurosurg 2012;114(7):1021-3
   Google Scholar