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

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.; Polymicrogyria Genetics Research Network; Abu-Libdeh, Bassam; Al-Gazali, Lihadh; Al Saffar, Muna; Alva Moncayo, Edith; Amrom, Dina; Anderman, Eva; Anttonen, Anna-Kaisa; Barnes, Saunder; Barnett, Sara; Barron, Todd; Barry, Brenda J.; Basel-Vanagaite, Lina; Bastaki, Laila; Bello-Espinosa, Luis

doi:10.1001/jamaneurol.2023.2363

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

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. P…