Shyam K Akula, Allen Y Chen, Jennifer E Neil, Diane D Shao, Alisa Mo, Norma K Hylton, Stephanie DiTroia, Vijay S Ganesh, Richard S Smith, Katherine O'Kane, Rebecca C Yeh, Jack H Marciano, Samantha Kirkham, Connor J Kenny, Janet H T Song, Muna Al Saffar, Francisca Millan, David J Harris, Andrea V Murphy, Kara C Klemp, Stephen R Braddock, Harrison Brand, Isaac Wong, Michael E Talkowski, Anne O'Donnell-Luria, Abbe Lai, Robert Sean Hill, Ganeshwaran H Mochida, Ryan N Doan, A James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A Walsh
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. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small fraction of cases. OBJECTIVE: To survey germline genetic causes of polymicrogyria in a large cohort and to consider novel polymicrogyria gene associations...
September 1, 2023: JAMA Neurology