Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Whole-exome sequencing of two brothers with drug-resistant, early-onset, focal epilepsy secondary to extensive type IIA focal cortical dysplasia identified a paternally inherited, nonsense variant of DEPDC5 (c.C1663T, p.Arg555*). This variant has previously been reported to cause familial focal epil...

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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: Scerri, Thomas, Riseley, Jessica R, Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A, Dibbens, Leanne, Chow, Chung W, Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D, Amor, David J, Delatycki, Martin B, Crino, Peter B, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie, Lockhart, Paul J, Leventer, Richard J
Format: Artigo
Langue:Inglês
Publié: BlackWell Publishing Ltd 2015
Sujets:
Brief Communications
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4435711/
https://ncbi.nlm.nih.gov/pubmed/26000329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.191
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