Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies

Nature Reviews Neurology

Volumn 9, Issue 5, 2013, Pages 237-

  Malpass, Katy ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL EPILEPSY; CHROMOSOME 22Q; CHROMOSOME 22Q12; DEPDC5 GENE; FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI; FAMILIAL TEMPORAL LOBE EPILEPSY; FAMILY; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RISK; GENETIC TRANSCRIPTION; HAPLOINSUFFICIENCY; HUMAN; LOSS OF FUNCTION MUTATION; MOLECULAR DIAGNOSIS; NONHUMAN; NONSENSE MUTATION; NOTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 84877576898     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2013.77     Document Type: Note

References (2)

1. Dibbens, L. M. et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat. Genet. doi:10.1038/ng.2599
2. Ishida, S. et al. Mutations in DEPDC5 cause autosomal dominant focal epilepsies. Nat. Genet. doi:10.1038/ng.2601