Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

Human Mutation

Volumn 30, Issue 3, 2009, Pages 397-405

  Saint Martin, Cécile ^a,b   Gauvain, Grégory ^b,c   Teodorescu, Georgeta ^d   Gourfinkel An, Isabelle ^a,e   Fedirko, Estelle ^e   Weber, Yvonne G ^d   Maljevic, Snezana ^d   Ernst, Jan Peter ^f   Garcia Olivares, Jennie ^g   Fahlke, Christoph ^g   Nabbout, Rima ^h   LeGuern, Eric ^a,b,e   Lerche, Holger ^d   Poncer, Jean Christophe ^b,c   Depienne, Christel ^a,b,e  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c INSTITUT DU FER À MOULIN   (France)

^d UNIVERSITY OF ULM   (Germany)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f Epilepsiezentrum Kork   (Germany)

^g HANNOVER MEDICAL SCHOOL   (Germany)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

CLCN2; Idiopathic generalized epilepsy; IGE; Patch clamp

Indexed keywords

BROMIDE; CARBAMAZEPINE; CHLORIDE CHANNEL; ETHOSUXIMIDE; LAMOTRIGINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNICITY; FEMALE; GENE MUTATION; GENERALIZED EPILEPSY; HETEROLOGOUS EXPRESSION; HUMAN; KETOGENIC DIET; MAJOR CLINICAL STUDY; MALE; MAMMAL CELL; MONOTHERAPY; MUTANT; PHENOTYPE; POPULATION; PRIORITY JOURNAL; WHOLE CELL;

MAMMALIA;

EID: 61649116159     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20876     Document Type: Article

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