Article
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain : a journal of neurology - 1 Mar 2018
Fry Andrew E, Fawcett Katherine A, Zelnik Nathanel, Yuan Hongjie, Thompson Belinda A N, Shemer-Meiri Lilach, Cushion Thomas D, Mugalaasi Hood, Sims David, Stoodley Neil, Chung Seo-Kyung, Rees Mark I, Patel Chirag V, Brueton Louise A, Layet Valérie, Giuliano Fabienne, Kerr Michael P, Banne Ehud, Meiner Vardiella, Lerman-Sagie Tally, Helbig Katherine L, Kofman Laura H, Knight Kristin M, Chen Wenjuan, Kannan Varun, Hu Chun, Kusumoto Hirofumi, Zhang Jin, Swanger Sharon A, Shaulsky Gil H, Mirzaa Ghayda M, Muir Alison M, Mefford Heather C, Dobyns William B, Mackenzie Amanda B, Mullins Jonathan G L, Lemke Johannes R, Bahi-Buisson Nadia, Traynelis Stephen F, Iago Heledd F, Pilz Daniela T
Abstract excerpt
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral...
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