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Updated: Nov 7, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

Somayeh Bakhtiari1, Abbas Tafakhori1, Sheng Chih Jin1

  • 1Pediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.

Neurology. Genetics
|April 29, 2021
PubMed
Abstract

No abstract available in PubMed .

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