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Paper Details

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain
32
2022
-AKT, -mTOR pathway genes, AKT, CASK, KRAS, NF1, NIPBL, PCDH19, PI3K, SLC35A2, alleles, brain malformations, brain tissue-derived DNA, children, cortical brain malformations, dysplastic tissue, epilepsy, focal cortical dysplasia, focal cortical dysplasia (type II, focal cortical dysplasia IIIa, focal cortical dysplasia type I, focal cortical dysplasia type I nor III, focal cortical dysplasia type II, focal cortical dysplasia type III, focal cortical dysplasia types I, II and III, focal cortical malformations, focal epilepsies, germline variants, hemimegalencephaly, hippocampal sclerosis, mTOR, malformations, neurodevelopmental disorders, neurological disease, neurological disease genes, non-dysplastic epileptic cortex, patient, patients, type II
Author NameAffiliation
Nicole WalleyDuke University School of Medicine
Anne F BuckleyDuke University Medical Center
Tristan T SandsInstitute for Genomic Medicine, Columbia University Medical Center
Tristan T SandsColumbia University Medical Center
Mohamad A MikatiDuke University
Mohamad A MikatiDuke University Medical Center
Guy M McKhannColumbia University, New York Presbyterian Hospital
Hart G W LidovBoston Children's Hospital, Harvard Medical School
Peter B CrinoUniversity of Maryland School of Medicine
Erin L HeinzenEshelman School of Pharmacy, University of North Carolina at Chapel Hill
Erin L HeinzenUniversity of North Carolina at Chapel Hill
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