Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Stéphanie Baulac and colleagues report the identification of mutations in the
DEPDC5
gene that cause focal epilepsies.
The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the
DEPDC5
gene (enc...
Alternative Titles
Full title
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5010101
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5010101
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2601
