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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Neurol Genet
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wolters Kluwer 2015
Aiheet:
Article
Linkit: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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