Novel &#945;1 and Î³2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Lachance-Touchette, Pamela; Brown, Patricia; Meloche, Caroline; Kinirons, Peter; Lapointe, Line; Lacasse, Hélène; Lortie, Anne; Carmant, Lionel; Bedford, Fiona; Bowie, Derek; Cossette, Patrick

Novel α1 and Î³2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Lachance-Touchette, Pamela; Brown, Patricia; Meloche, Caroline; Kinirons, Peter; Lapointe, Line; Lacasse, Hélène; Lortie, Anne; Carmant, Lionel; Bedford, Fiona; Bowie, Derek; Cossette, Patrick.

Affiliation

Lachance-Touchette P; Centre for Excellence in Neuromics of University of Montreal, CHUM Research Center, 1560 Sherbrooke est, Montreal, QC, Canada H2L 4M1.

Eur J Neurosci ; 34(2): 237-49, 2011 Jul.

Article in En | MEDLINE | ID: mdl-21714819

Subject(s)

Epilepsy, Generalized/genetics; Genetic Predisposition to Disease; Mutation; Protein Subunits/genetics; Receptors, GABA-A/genetics; Amino Acid Sequence; Animals; Base Sequence; DNA Mutational Analysis; Female; HEK293 Cells; Humans; Male; Models, Molecular; Molecular Sequence Data; Mutagenesis, Site-Directed; Patch-Clamp Techniques; Pedigree; Protein Conformation; Protein Subunits/chemistry; Receptors, GABA-A/chemistry; Sequence Alignment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Receptors, GABA-A / Genetic Predisposition to Disease / Protein Subunits / Mutation Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Eur J Neurosci Journal subject: NEUROLOGIA Year: 2011 Document type: Article Country of publication: France

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