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Article

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

Epilepsia - 1 Dec 2024

Sanders Maurits W C B, Koeleman Bobby P C, Brilstra Eva H, Jansen Floor E, Baldassari Sara, Chipaux Mathilde, Sim Nam Suk, Ko Ara, Kang Hoon-Chul, Blümcke Ingmar, Lal Dennis, Baulac Stéphanie, Lee Jeong Ho, Aronica Eleonora, Braun Kees P J

Abstract excerpt

We studied the distribution of germline and somatic variants in epilepsy surgery patients with (suspected) malformations of cortical development (MCD) who underwent surgery between 2015 and 2020 at University Medical Center Utrecht (the Netherlands) and pooled our data with four previously published cohort studies. Tissue analysis yielded a pathogenic variant in 203 of 663 (31%) combined cases. In 126 of 379...

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Identifiers

PMID: 39460693
DOI: 10.1111/epi.18148
PMCID: PMC11647421

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