A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population

Clinical Genetics

Volumn 86, Issue 6, 2014, Pages 570-574

  Martin, C ^a   Meloche, C ^a   Rioux, M F ^b   Nguyen, D K ^a   Carmant, L ^c   Andermann, E ^d   Gravel, M ^a   Cossette, P ^a  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

Epilepsy; Familial focal epilepsy with variable foci; Founder effect; Mutation

Indexed keywords

ALLELE; ARTICLE; CLINICAL PRACTICE; DEPDC5 GENE; FOCAL EPILEPSY; GENE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; ADOLESCENT; ADULT; CANADA; CHILD; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PEDIGREE; PRESCHOOL CHILD;

DEPDC5 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ADOLESCENT; ADULT; CANADA; CHILD; CHILD, PRESCHOOL; EPILEPSIES, PARTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; REPRESSOR PROTEINS;

EID: 84937511052     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12311     Document Type: Article

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