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Article

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

European journal of human genetics : EJHG - 1 Aug 2016

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

Abstract excerpt

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) syndrome and bilateral perisylvian polymicrogyria (BPP). Our patient showed cerebral abnormalities...

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Identifiers

PMID: 26860062
DOI: 10.1038/ejhg.2016.7
PMCID: PMC4989218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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