Møller RS , Wuttke TV , Helbig I , Marini C , Johannesen KM , Brilstra EH , Vaher U , Borggraefe I , Talvik I , Talvik T , Kluger G , Francois LL , Lesca G , de Bellescize J , Blichfeldt S , Chatron N , Holert N , Jacobs J , Swinkels M , Betzler C , Syrbe S , Nikanorova M , Myers CT , Larsen LH , Vejzovic S , Pendziwiat M , von Spiczak S , Hopkins S , Dubbs H , Mang Y , Mukhin K , Holthausen H , van Gassen KL , Dahl HA , Tommerup N , Mefford HC , Rubboli G , Guerrini R , Lemke JR , Lerche H , Muhle H , Maljevic S .

R56 NS069605 NINDS NIH HHS , U54 HD083091 NICHD NIH HHS , R01 NS069605 NINDS NIH HHS

                West syndrome
                generalized epilepsy with febrile seizures plus
                myoclonic-atonic epilepsy
                epilepsy

Allen, De novo mutations in epileptic encephalopathies. 2013, Pubmed

Allen, De novo mutations in epileptic encephalopathies. 2013, Pubmed
Baulac, First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. 2001, Pubmed , Xenbase
Berg, Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 2010, Pubmed
Carvill, Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 2015, Pubmed
Carvill, GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 2014, Pubmed
Carvill, Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 2013, Pubmed
Cossette, Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 2002, Pubmed
Dimova, Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. 2010, Pubmed
Doose, Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease. 1987, Pubmed
Doose, Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation. 1970, Pubmed
Epi4K Consortium, De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 2016, Pubmed
Escayg, A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. 2001, Pubmed
Goldberg-Stern, Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus. 2014, Pubmed
Hamdan, De novo mutations in moderate or severe intellectual disability. 2014, Pubmed
Hirose, Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. 2014, Pubmed
Janve, Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 2016, Pubmed
Johannesen, Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 2016, Pubmed , Xenbase
Johnston, A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. 2014, Pubmed
Kananura, A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. 2002, Pubmed
Kang, The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. 2004, Pubmed
Larsen, The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 2015, Pubmed
Maljevic, A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 2006, Pubmed
McTague, The genetic landscape of the epileptic encephalopathies of infancy and childhood. 2016, Pubmed
Milh, Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 2015, Pubmed
Miller, Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. 2014, Pubmed
Møller, Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 2016, Pubmed
Møller, Mutations in KCNT1 cause a spectrum of focal epilepsies. 2015, Pubmed
Mullen, Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 2011, Pubmed
Noebels, GABAA Receptor Subunit Mutations and Genetic Epilepsies 2012, Pubmed
Orhan, Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 2014, Pubmed , Xenbase
Papandreou, GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 2016, Pubmed
Reid, Multiple molecular mechanisms for a single GABAA mutation in epilepsy. 2013, Pubmed
Rubinstein, Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. 2015, Pubmed
Wallace, Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 2001, Pubmed
Wallace, Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 2001, Pubmed
Wallace, Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 1998, Pubmed , Xenbase
Warner, Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. 2016, Pubmed
Wen, Upregulation of RBFOX1 in the malformed cortex of patients with intractable epilepsy and in cultured rat neurons. 2015, Pubmed
Yordanova, One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. 2011, Pubmed
Zhang, Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. 2015, Pubmed