A recurrent mutation inDEPDC5predisposes to focal epilepsies in the French-Canadian population-Reference-Cited by-同舟云学术

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A recurrent mutation inDEPDC5predisposes to focal epilepsies in the French-Canadian population

Published:2013-11-27 Issue:6 Volume:86 Page:570-574
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Martin C.¹,Meloche C.¹,Rioux M.-F.²,Nguyen D.K.¹,Carmant L.³,Andermann E.⁴,Gravel M.¹,Cossette P.¹

Affiliation:

1. CHUM Research Center; University of Montreal; Montreal Quebec Canada

2. Department of Neurology; Centre Hospitalier de l'Université de Sherbrooke; Sherbrooke Québec Canada

3. Department of Neuropediatry; CHU Sainte-Justine; Montréal Québec Canada

4. Montreal Neurological Institute; McGill University; Montreal Quebec Canada

Funder

Canadian Institutes for Health Research

Genome Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Advances on the genetics of Mendelian idiopathic epilepsies;Baulac;Clin Lab Med,2010

2. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy;Heron;Nat Genet,2012

3. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features;Kalachikov;Nat Genet,2002

4. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum;Klein;Epilepsia,2012

5. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12;Berkovic;Epilepsia,2004

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1. DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature;Epileptic Disorders;2024-05-16

2. The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions;Genes;2024-03-04

3. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report;BMC Pediatrics;2022-07-30

4. DEPDC5-related epilepsy: A comprehensive review;Epilepsy & Behavior;2022-05

5. ILAE Genetic Literacy Series: familial focal epilepsy syndromes;Epileptic Disorders;2022-04

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