Mutations in DEPDC5 cause familial focal epilepsy with variable foci-Reference-Cited by-同舟云学术

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Published:2013-03-31 Issue:5 Volume:45 Page:546-551
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Dibbens Leanne M,de Vries Boukje,Donatello Simona,Heron Sarah E,Hodgson Bree L,Chintawar Satyan,Crompton Douglas E,Hughes James N,Bellows Susannah T,Klein Karl Martin,Callenbach Petra M C,Corbett Mark A,Gardner Alison E,Kivity Sara,Iona Xenia,Regan Brigid M,Weller Claudia M,Crimmins Denis,O'Brien Terence J,Guerrero-López Rosa,Mulley John C,Dubeau Francois,Licchetta Laura,Bisulli Francesca,Cossette Patrick,Thomas Paul Q,Gecz Jozef,Serratosa Jose,Brouwer Oebele F,Andermann Frederick,Andermann Eva,van den Maagdenberg Arn M J M,Pandolfo Massimo,Berkovic Samuel F,Scheffer Ingrid E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2599.pdf

Reference26 articles.

1. Scheffer, I.E. et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann. Neurol. 44, 890–899 (1998).

2. Xiong, L. et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am. J. Hum. Genet. 65, 1698–1710 (1999).

3. Callenbach, P.M.C. et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 44, 1298–1305 (2003).

4. Berkovic, S.F. et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 45, 1054–1060 (2004).

5. Klein, K.M. et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia 53, e151–e155 (2012).

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