GABRD encoding a protein for extra- or peri- synaptic GABAA receptors is susceptibility locus for generalized epilepsies

Human Molecular Genetics

Volumn 13, Issue 13, 2004, Pages 1315-1319

  Dibbens, Leanne M ^a,b   Feng, Hua Jun ^c   Richards, Michaella C ^a   Harkin, Louise A ^a,b   Hodgson, Bree L ^a   Scott, Darren ^a   Jenkins, Misty ^d   Petrou, Steven ^d   Sutherland, Grant R ^a,b   Scheffer, Ingrid E ^d   Berkovic, Samuel F ^d   Macdonald, Robert L ^c   Mulley, John C ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; ALANINE; ARGININE; GLUTAMINE; HISTIDINE; RECEPTOR PROTEIN;

ALLELE; ARTICLE; CONTROLLED STUDY; FEBRILE CONVULSION; GENERALIZED EPILEPSY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NERVE CELL EXCITABILITY; NERVE CELL INHIBITION; NERVE CELL MEMBRANE POTENTIAL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SYNAPTIC MEMBRANE; WILD TYPE;

AMINO ACID SUBSTITUTION; EPILEPSY, GENERALIZED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MULTIFACTORIAL INHERITANCE; PEDIGREE; POINT MUTATION; RECEPTORS, GABA-A; SEIZURES, FEBRILE; SYNAPTIC MEMBRANES;

EID: 3242705038     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh146     Document Type: Article

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