First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

Baulac, S; Huberfeld, G; Gourfinkel-An, I; Mitropoulou, G; Beranger, A; Prud'homme, J F; Baulac, M; Brice, A; Bruzzone, R; LeGuern, E

Baulac, S; Huberfeld, G; Gourfinkel-An, I; Mitropoulou, G; Beranger, A; Prud'homme, J F; Baulac, M; Brice, A; Bruzzone, R; LeGuern, E.

Affiliation

Baulac S; INSERM U289, Cytogénétique et Embryologie, Hôpital de la Pitié-Salpêtrière, Paris, France.

Nat Genet ; 28(1): 46-8, 2001 May.

Article in En | MEDLINE | ID: mdl-11326274

Subject(s)

Epilepsy/genetics; Mutation; Receptors, GABA-A/genetics; Amino Acid Sequence; Chromosome Segregation; Conserved Sequence; Electric Conductivity; Epilepsy, Benign Neonatal/genetics; Epilepsy, Frontal Lobe/genetics; Epilepsy, Generalized/genetics; Female; Humans; Male; Models, Molecular; Molecular Sequence Data; Pedigree; Protein Subunits; Seizures, Febrile/genetics; Sequence Homology, Amino Acid

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-A / Epilepsy / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2001 Type: Article Affiliation country: France

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