Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

ABSTRACT:

Importance

Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small fraction of cases.

Objective

To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene associations.

Design, setting, and participants

This genetic association study analyzed panel sequencing and exome sequencing of accrued DNA samples from a retrospective cohort of families with members with polymicrogyria

SUBMITTER: Akula SK 

PROVIDER: S-EPMC10366952 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature