Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Nature Genetics

Volumn 31, Issue 2, 2002, Pages 184-189

  Cossette, Patrick ^a,e   Liu, Lidong ^b,g   Brisebois, Katéri ^a   Dong, Haiheng ^c   Lortie, Anne ^d   Vanasse, Michel ^d   Saint Hilaire, Jean Marc ^e   Carmant, Lionel ^d,e   Verner, Andrei ^f   Lu, Wei Yang ^c   Wang, Yu Tian ^b,g   Rouleau, Guy A ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e NOTRE DAME HOSPITAL   (Canada)

^f MONTREAL GENERAL HOSPITAL   (Canada)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ALANINE; ASPARTIC ACID; GAMMA AMINOBUTYRIC ACID RECEPTOR A1; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CHANNEL GATING; CONTROLLED STUDY; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC LINKAGE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR UPREGULATION; SEIZURE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; EPILEPSY, GENERALIZED; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCLONIC EPILEPSY, JUVENILE; PEDIGREE; RECEPTORS, GABA-A;

EID: 18544364797     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng885     Document Type: Article

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