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Article

Diverse genetic causes of polymicrogyria with epilepsy.

Epilepsia - 1 Apr 2021

Abstract excerpt

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...

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Identifiers

PMID: 33818783
DOI: 10.1111/epi.16854
PMCID: PMC10838185

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