P562: The diagnostic yield of clinical testing for somatic variation in cortical malformations and epilepsy*

Genetics in Medicine Open 2026 Open access

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Authors: Ruizhi Duan, Meagan M. Corliss, Kevin M. Bowling, Jason Walker, Kilannin Krysiak, Katarzyna Polonis, Molly Schroeder, Bijal A. Parikh, Julie Neidich, Yang Cao
DOI: 10.1016/j.gimo.2026.104053
Cited by: 0

Abstract

The developmental trajectory of the human brain is highly susceptible to somatic variants (genetic alterations acquired after fertilization), which establish distinct cellular lineages. The emergence of somatic pathogenic variants during neurodevelopment constitutes a critical risk factor for the development of severe neuropathological phenotypes, such as cortical dysplasia, brain lesions, and other structural malformations. Clinically, these malformations are often the cause of epilepsy and a wide spectrum of neurological phenotypes.

Fields of Study & Subjects

Epilepsy research and treatment Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104053–104053
Publication date
1 January 2026
Language
EN