Diverse genetic causes of polymicrogyria with epilepsy.

ABSTRACT:

Objective

We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy.

Methods

We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA.

Results

Across the cohort of 86 individuals with polymicrogyria and epilepsy, we identified seven with pathogenic or likely pathogenic variants in PIK3R2, inc

SUBMITTER: Epilepsy Phenome/Genome Project, Epi4K Consortium 

PROVIDER: S-EPMC10838185 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature