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

• Published in: Archives of neurology (Chicago) Vol. 80; no. 9; p. 980
• Main Authors: Akula, Shyam K, Chen, Allen Y, Neil, Jennifer E, Shao, Diane D, Mo, Alisa, Hylton, Norma K, DiTroia, Stephanie, Ganesh, Vijay S, Smith, Richard S, O'Kane, Katherine, Yeh, Rebecca C, Marciano, Jack H, Kirkham, Samantha, Kenny, Connor J, Song, Janet H T, Al Saffar, Muna, Millan, Francisca, Harris, David J, Murphy, Andrea V, Klemp, Kara C, Braddock, Stephen R, Brand, Harrison, Wong, Isaac, Talkowski, Michael E, O'Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H, Doan, Ryan N, Barkovich, A James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A
• Format: Journal Article
• Language: English
• Published: United States American Medical Association 01.09.2023
• Subjects: Abnormalities; Cognitive ability; Complications; Connexins - genetics; Diagnosis; DNA sequencing; Epilepsy; Exome Sequencing; Genes; Genetic diversity; Genetic screening; Genetic variance; Genotypes; Humans; Medical imaging; Mutation, Missense; Nerve Tissue Proteins - genetics; Neuroimaging; Next-generation sequencing; Phenotypes; Polymicrogyria; Polymicrogyria - diagnostic imaging; Polymicrogyria - genetics; Quality control; Retrospective Studies; Siblings

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...