Detection of brain somatic variation in epilepsy-associated developmental lesions.

doi:10.1111/epi.17323

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Detection of brain somatic variation in epilepsy-associated developmental lesions.

Epilepsia - 1 Aug 2022

Bedrosian Tracy A, Miller Katherine E, Grischow Olivia E, Schieffer Kathleen M, LaHaye Stephanie, Yoon Hyojung, Miller Anthony R, Navarro Jason, Westfall Jesse, Leraas Kristen, Choi Samantha, Williamson Rachel, Fitch James, Kelly Benjamin J, White Peter, Lee Kristy, McGrath Sean, Cottrell Catherine E, Magrini Vincent, Leonard Jeffrey, Pindrik Jonathan, Shaikhouni Ammar, Boué Daniel R, Thomas Diana L, Pierson Christopher R, Wilson Richard K, Ostendorf Adam P, Mardis Elaine R, Koboldt Daniel C

Abstract excerpt

OBJECTIVE: Epilepsy-associated developmental lesions, including malformations of cortical development and low-grade developmental tumors, represent a major cause of drug-resistant seizures requiring surgical intervention in children. Brain-restricted somatic mosaicism has been implicated in the genetic etiology of these lesions; however, many contributory genes remain unidentified. METHODS: We enrolled 50...

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PMID: 35687047
DOI: 10.1111/epi.17323

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