@article{fdb95640cb9445a19c04bb2bf24dad60,
title = "PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome",
abstract = "We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings. PI4K2A is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating PI4K2A as a new disease gene for a neurological disorder.",
author = "Alkhater, {Reem A.} and Scherer, {Stephen W.} and Minassian, {Berge Arakel} and Susan Walker",
note = "Funding Information: Dr. Walker and Dr. Alkhater report no disclosures. Dr. Scherer holds the GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto and The Hospital for Sick Children; is on the scientific advisory board for Deep Genomics; has served on the scientific advisory board of Population Diagnostics; has served on the editorial boards of Genomic Medicine, Genes, Genomes, Genetics, the Journal of Personalized Medicine, the Open Genomics Journal, the Hugo Journal, Genome Medicine, the Journal of Neurode-velopmental Disorders, Autism Research, PathoGenetics, Comparative and Functional Genomics, BMC Medical Genomics, and Cytogenetics and Genome Research; and has received research support from Genome Canada/Ontario Genomics Institute, Canadian Institutes of Health Research, Canadian Institute for Advanced Research, McLaughlin Centre, Canada Foundation for Innovation, government of Ontario, and NIH. Dr. Minassian holds patents for diagnostic testing of the following genes: EPM2A, EPM2B, MECP2, and VMA21; has received research support from NIH; and has received license fee payments/royalty payments from patents for diagnostic testing of the following genes: EPM2A, EPM2B, MECP2, and VMA21. Funding Information: We thank the family for their participation in the study and The Centre for Applied Genomics for their analytical and technical support. We thank Dr. Miriam Reuter for helpful comments. This work was supported by the Canadian Institutes of Health Research (CIHR). S.W.S. is funded by the GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto, The Hospital for Sick Children, the University of Toronto McLaughlin Centre, Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the Canadian Institute for Advanced Research, and the Canada Foundation for Innovation. B.A.M holds the University of Toronto Michael Bahen Chair in Epilepsy Research and the University of Texas Southwestern Jimmy Elizabeth Westcott Distinguished Chair in Pediatric Neurology. Funding Information: This work was supported by the Canadian Institutes of Health Research (CIHR). S.W.S. is funded by the GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto, The Hospital for Sick Children, the University of Toronto McLaughlin Centre, Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the Canadian Institute for Advanced Research, and the Canada Foundation for Innovation. B.A.M holds the University of Toronto Michael Bahen Chair in Epilepsy Research and the University of Texas Southwestern Jimmy Elizabeth Westcott Distinguished Chair in Pediatric Neurology. Publisher Copyright: {\textcopyright} 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.",
year = "2018",
month = dec,
doi = "10.1002/acn3.677",
language = "English (US)",
volume = "5",
pages = "1617--1621",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "12",
}