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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Publicat a:Neurol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2015
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Article
Accés en línia: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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