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The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
JAMA Neurology|May 10, 2016
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary MosaicismGhayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Nature Genetics|January 12, 2023
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical developmentChanguk Chung, Xiaoxu Yang, Taejeong Bae, et al.
JCI Insight|September 16, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
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