First genetic evidence of GABAA receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene

Nature Genetics

Volumn 28, Issue 1, 2001, Pages 46-48

  Baulac, Stéphanie ^a   Huberfeld, Gilles ^a   Gourfinkel An, Isabelle ^a,b   Mitropoulou, Georgia ^c   Beranger, Alexandre ^a   Prud'homme, Jean François ^b   Baulac, Michel ^a   Brice, Alexis ^a   Bruzzone, Roberto ^c   LeGuern, Eric ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b GÉNÉTHON   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; NICOTINIC RECEPTOR; POTASSIUM; POTASSIUM CHANNEL; RECEPTOR SUBUNIT; SODIUM; SODIUM CHANNEL;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BENIGN CHILDHOOD EPILEPSY; CONTROLLED STUDY; EPILEPSY; FEBRILE CONVULSION; FEMALE; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROTRANSMISSION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

XENOPUS LAEVIS;

EID: 0035030766     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0501-46     Document Type: Article

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