Epileptic spasms are a feature of DEPDC5 mTORopathy

OBJECTIVE: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. METHODS: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic v...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4807908/
https://ncbi.nlm.nih.gov/pubmed/27066554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000016
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