De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalencephaly–polymicrogyria–polydactyly–hydrocephalus (MPPH...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Terrone, Gaetano, Voisin, Norine, Abdullah Alfaiz, Ali, Cappuccio, Gerarda, Vitiello, Giuseppina, Guex, Nicolas, D'Amico, Alessandra, James Barkovich, A, Brunetti-Pierri, Nicola, Del Giudice, Ennio, Reymond, Alexandre
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Short Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989218/
https://ncbi.nlm.nih.gov/pubmed/26860062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.7
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