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Paper Details

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Lancet Neurol
56
2015
AKT, BPP, Bilateral perisylvian polymicrogyria, Children, Gly373Arg, Lys376Glu, MPPH syndrome, MPPH) syndrome, PI3K, PIK3R2, PIK3R2 gene, PIK3R2 mutation, PIK3R2 mutations, alternate, blood, blood-derived DNA, child, children, cognitive impairment, congenital bilateral perisylvian syndrome, developmental brain disorders, epilepsy, mTOR, megalencephaly-polymicrogyria-polydactyly-hydrocep (, oromotor dysfunction, patient, patients, perisylvian polymicrogyria, phosphoinositide-3-kinase regulatory subunit, polymicrogyria, saliva, saliva-derived DNA
Author NameAffiliation
Ghayda M MirzaaUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Amy GoldsteinChildren's Hospital of Pittsburgh
Patrick NitschkeInstitut Imagine
Anne SlavotinekUniversity of California san francisco
Anne SlavotinekUniversity of California san francisco
Jay ShendureUniversity of Washington
Jay ShendureUniversity of Washington
William B DobynsUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
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