Truncation of the GABAa-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus

American Journal of Human Genetics

Volumn 70, Issue 2, 2002, Pages 530-536

  Harkin, Louise A ^a,b   Bowser, David N ^d   Dibbens, Leanne M ^a,b   Singh, Rita ^d,e   Phillips, Fiona ^d,e   Wallace, Robyn H ^a,b   Richards, Michaella C ^a   Williams, David A ^d   Mulley, John C ^a,c   Berkovic, Samuel F ^d,e   Scheffer, Ingrid E ^d,e,f   Petrou, Steven ^d  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f MONASH MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; RECEPTOR SUBUNIT;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEBRILE CONVULSION; FEMALE; GENE MUTATION; GENE SEGREGATION; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; HUMAN; MALE; MOLECULAR RECOGNITION; MULTIGENE FAMILY; MYOCLONUS EPILEPSY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

XENOPUS LAEVIS;

EID: 0036155260     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/338710     Document Type: Article

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