Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Identifieur interne : 002589 ( PubMed/Curation ); précédent : 002588; suivant : 002590Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Auteurs : Ghayda M. Mirzaa [États-Unis] ; Valerio Conti [Italie] ; Andrew E. Timms [États-Unis] ; Christopher D. Smyser [États-Unis] ; Sarah Ahmed [États-Unis] ; Melissa Carter [Canada] ; Sarah Barnett [États-Unis] ; Robert B. Hufnagel [États-Unis] ; Amy Goldstein [États-Unis] ; Yoko Narumi-Kishimoto [Japon] ; Carissa Olds [États-Unis] ; Sarah Collins [États-Unis] ; Kathreen Johnston [États-Unis] ; Jean-François Deleuze [France] ; Patrick Nitschké [France] ; Kathryn Friend [Australie] ; Catharine Harris [États-Unis] ; Allison Goetsch [États-Unis] ; Beth Martin [États-Unis] ; Evan August Boyle [États-Unis] ; Elena Parrini [Italie] ; Davide Mei [Italie] ; Lorenzo Tattini [Italie] ; Anne Slavotinek [États-Unis] ; Ed Blair [Royaume-Uni] ; Christopher Barnett [Australie] ; Jay Shendure [États-Unis] ; Jamel Chelly [France] ; William B. Dobyns [États-Unis] ; Renzo Guerrini [Italie]Source :
- The Lancet. Neurology [ 1474-4465 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Phosphatidylinositol 3-Kinases.
- genetics : Abnormalities, Multiple, Intellectual Disability, Malformations of Cortical Development.
- Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Humans, Infant, Mutation, Young Adult.
Abstract
Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. The causes of BPP are heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic causes of BPP and characterise their frequency in this population.
DOI: 10.1016/S1474-4422(15)00278-1
PubMed: 26520804
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wicri:level="1"><nlm:affiliation>Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name><affiliation wicri:level="1"><nlm:affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name><affiliation wicri:level="1"><nlm:affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Johnston, Kathreen" sort="Johnston, Kathreen" uniqKey="Johnston K" first="Kathreen" last="Johnston">Kathreen Johnston</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Department, Permanente Medical Group, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genetics Department, Permanente Medical Group, San Francisco, CA</wicri:regionArea></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation wicri:level="1"><nlm:affiliation>Centre National de Génotypage, Evry, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de Génotypage, Evry</wicri:regionArea></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation wicri:level="1"><nlm:affiliation>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Catharine" sort="Harris, Catharine" uniqKey="Harris C" first="Catharine" last="Harris">Catharine Harris</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, University of Missouri, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, University of Missouri, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Goetsch, Allison" sort="Goetsch, Allison" uniqKey="Goetsch A" first="Allison" last="Goetsch">Allison Goetsch</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL</wicri:regionArea></affiliation></author><author><name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University School of Medicine, Stanford, CA</wicri:regionArea></affiliation></author><author><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Tattini, Lorenzo" sort="Tattini, Lorenzo" uniqKey="Tattini L" first="Lorenzo" last="Tattini">Lorenzo Tattini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA</wicri:regionArea></affiliation></author><author><name sortKey="Blair, Ed" sort="Blair, Ed" uniqKey="Blair E" first="Ed" last="Blair">Ed Blair</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington</wicri:regionArea></affiliation></author><author><name sortKey="Barnett, Christopher" sort="Barnett, Christopher" uniqKey="Barnett C" first="Christopher" last="Barnett">Christopher Barnett</name><affiliation wicri:level="1"><nlm:affiliation>South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide</wicri:regionArea></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:affiliation>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address: renzo.guerrini@meyer.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26520804</idno><idno type="pmid">26520804</idno><idno type="doi">10.1016/S1474-4422(15)00278-1</idno><idno type="wicri:Area/PubMed/Corpus">002658</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002658</idno><idno type="wicri:Area/PubMed/Curation">002589</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002589</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.</title><author><name sortKey="Mirzaa, Ghayda M" sort="Mirzaa, Ghayda M" uniqKey="Mirzaa G" first="Ghayda M" last="Mirzaa">Ghayda M. Mirzaa</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: gmirzaa@uw.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Conti, Valerio" sort="Conti, Valerio" uniqKey="Conti V" first="Valerio" last="Conti">Valerio Conti</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E" last="Timms">Andrew E. Timms</name><affiliation wicri:level="1"><nlm:affiliation>Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Smyser, Christopher D" sort="Smyser, Christopher D" uniqKey="Smyser C" first="Christopher D" last="Smyser">Christopher D. Smyser</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Pediatrics, Washington University School of Medicine, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology and Pediatrics, Washington University School of Medicine, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Ahmed, Sarah" sort="Ahmed, Sarah" uniqKey="Ahmed S" first="Sarah" last="Ahmed">Sarah Ahmed</name><affiliation wicri:level="1"><nlm:affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Carter, Melissa" sort="Carter, Melissa" uniqKey="Carter M" first="Melissa" last="Carter">Melissa Carter</name><affiliation wicri:level="1"><nlm:affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON</wicri:regionArea></affiliation></author><author><name sortKey="Barnett, Sarah" sort="Barnett, Sarah" uniqKey="Barnett S" first="Sarah" last="Barnett">Sarah Barnett</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, University of Missouri, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, University of Missouri, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Hufnagel, Robert B" sort="Hufnagel, Robert B" uniqKey="Hufnagel R" first="Robert B" last="Hufnagel">Robert B. Hufnagel</name><affiliation wicri:level="1"><nlm:affiliation>Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH</wicri:regionArea></affiliation></author><author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><affiliation wicri:level="1"><nlm:affiliation>Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA</wicri:regionArea></affiliation></author><author><name sortKey="Narumi Kishimoto, Yoko" sort="Narumi Kishimoto, Yoko" uniqKey="Narumi Kishimoto Y" first="Yoko" last="Narumi-Kishimoto">Yoko Narumi-Kishimoto</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo</wicri:regionArea></affiliation></author><author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name><affiliation wicri:level="1"><nlm:affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name><affiliation wicri:level="1"><nlm:affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Johnston, Kathreen" sort="Johnston, Kathreen" uniqKey="Johnston K" first="Kathreen" last="Johnston">Kathreen Johnston</name><affiliation wicri:level="1"><nlm:affiliation>Genetics Department, Permanente Medical Group, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genetics Department, Permanente Medical Group, San Francisco, CA</wicri:regionArea></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation wicri:level="1"><nlm:affiliation>Centre National de Génotypage, Evry, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre National de Génotypage, Evry</wicri:regionArea></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschké">Patrick Nitschké</name><affiliation wicri:level="1"><nlm:affiliation>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Catharine" sort="Harris, Catharine" uniqKey="Harris C" first="Catharine" last="Harris">Catharine Harris</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, University of Missouri, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, University of Missouri, St Louis, MO</wicri:regionArea></affiliation></author><author><name sortKey="Goetsch, Allison" sort="Goetsch, Allison" uniqKey="Goetsch A" first="Allison" last="Goetsch">Allison Goetsch</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL</wicri:regionArea></affiliation></author><author><name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University School of Medicine, Stanford, CA</wicri:regionArea></affiliation></author><author><name sortKey="Parrini, Elena" sort="Parrini, Elena" uniqKey="Parrini E" first="Elena" last="Parrini">Elena Parrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Tattini, Lorenzo" sort="Tattini, Lorenzo" uniqKey="Tattini L" first="Lorenzo" last="Tattini">Lorenzo Tattini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA</wicri:regionArea></affiliation></author><author><name sortKey="Blair, Ed" sort="Blair, Ed" uniqKey="Blair E" first="Ed" last="Blair">Ed Blair</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington</wicri:regionArea></affiliation></author><author><name sortKey="Barnett, Christopher" sort="Barnett, Christopher" uniqKey="Barnett C" first="Christopher" last="Barnett">Christopher Barnett</name><affiliation wicri:level="1"><nlm:affiliation>South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide</wicri:regionArea></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:affiliation>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B" last="Dobyns">William B. Dobyns</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address: renzo.guerrini@meyer.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa</wicri:regionArea></affiliation></author></analytic><series><title level="j">The Lancet. Neurology</title><idno type="eISSN">1474-4465</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Infant</term><term>Intellectual Disability (genetics)</term><term>Malformations of Cortical Development (genetics)</term><term>Mutation</term><term>Phosphatidylinositol 3-Kinases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Déficience intellectuelle (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Jeune adulte</term><term>Malformations corticales (génétique)</term><term>Malformations multiples (génétique)</term><term>Mutation</term><term>Nourrisson</term><term>Phosphatidylinositol 3-kinases (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphatidylinositol 3-Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Malformations of Cortical Development</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Malformations corticales</term><term>Malformations multiples</term><term>Phosphatidylinositol 3-kinases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Infant</term><term>Mutation</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Jeune adulte</term><term>Mutation</term><term>Nourrisson</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. The causes of BPP are heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic causes of BPP and characterise their frequency in this population.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26520804</PMID><DateCreated><Year>2015</Year><Month>11</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>03</Month><Day>03</Day></DateCompleted><DateRevised><Year>2017</Year><Month>01</Month><Day>23</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1474-4465</ISSN><JournalIssue CitedMedium="Internet"><Volume>14</Volume><Issue>12</Issue><PubDate><Year>2015</Year><Month>Dec</Month></PubDate></JournalIssue><Title>The Lancet. Neurology</Title><ISOAbbreviation>Lancet Neurol</ISOAbbreviation></Journal><ArticleTitle>Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.</ArticleTitle><Pagination><MedlinePgn>1182-95</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/S1474-4422(15)00278-1</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1474-4422(15)00278-1</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. The causes of BPP are heterogeneous, but only a few genetic causes have been reported. The aim of this study was to identify additional genetic causes of BPP and characterise their frequency in this population.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Children (aged ≤18 years) with polymicrogyria were enrolled into our research programme from July, 1980, to October, 2015, at two centres (Florence, Italy, and Seattle, WA, USA). We obtained samples (blood and saliva) throughout this period at both centres and did whole-exome sequencing on DNA from eight trios (two parents and one affected child) with BPP in 2014. After the identification of mosaic PIK3R2 mutations in two of these eight children, we performed targeted screening of PIK3R2 by two methods in a cohort of 118 children with BPP. First, we performed targeted sequencing of the entire PIK3R2 gene by single molecule molecular inversion probes (smMIPs) on 38 patients with BPP with normal to large head size. Second, we did amplicon sequencing of the recurrent PIK3R2 mutation (Gly373Arg) in 80 children with various types of polymicrogyria including BPP. One additional patient had clinical whole-exome sequencing done independently, and was included in this study because of the phenotypic similarity to our cohort.</AbstractText><AbstractText Label="FINDINGS" NlmCategory="RESULTS">We identified a mosaic mutation (Gly373Arg) in a regulatory subunit of the PI3K-AKT-mTOR pathway, PIK3R2, in two children with BPP. Of the 38 patients with BPP and normal to large head size who underwent targeted next-generation sequencing by smMIPs, we identified constitutional and mosaic PIK3R2 mutations in 17 additional children. In parallel, one patient had the recurrent PIK3R2 mutation identified by clinical whole-exome sequencing. Seven of these 20 patients had BPP alone, and 13 had BPP in association with features of the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. 19 patients had the same mutation (Gly373Arg), and one had a nearby missense mutation (Lys376Glu). Mutations were constitutional in 12 patients and mosaic in eight patients. In patients with mosaic mutations, we noted substantial variation in alternate (mutant) allele levels, ranging from ten (3%) of 377 reads to 39 (37%) of 106 reads, equivalent to 5-73% of cells analysed. Levels of mosaicism varied from undetectable to 37 (17%) of 216 reads in blood-derived DNA compared with 2030 (29%) of 6889 reads to 275 (43%) of 634 reads in saliva-derived DNA.</AbstractText><AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome. The phenotypic variability and low-level mosaicism, which challenge conventional molecular methods, have important implications for genetic testing and counselling.</AbstractText><AbstractText Label="FUNDING" NlmCategory="BACKGROUND">US National Institutes of Health.</AbstractText><CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mirzaa</LastName><ForeName>Ghayda M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: gmirzaa@uw.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Conti</LastName><ForeName>Valerio</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Timms</LastName><ForeName>Andrew E</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Smyser</LastName><ForeName>Christopher D</ForeName><Initials>CD</Initials><AffiliationInfo><Affiliation>Department of Neurology and Pediatrics, Washington University School of Medicine, St Louis, MO, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahmed</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carter</LastName><ForeName>Melissa</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barnett</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, University of Missouri, St Louis, MO, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hufnagel</LastName><ForeName>Robert B</ForeName><Initials>RB</Initials><AffiliationInfo><Affiliation>Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goldstein</LastName><ForeName>Amy</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Narumi-Kishimoto</LastName><ForeName>Yoko</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Shimada Ryoiku Center Hachioji, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Olds</LastName><ForeName>Carissa</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johnston</LastName><ForeName>Kathreen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Genetics Department, Permanente Medical Group, San Francisco, CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deleuze</LastName><ForeName>Jean-François</ForeName><Initials>JF</Initials><AffiliationInfo><Affiliation>Centre National de Génotypage, Evry, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nitschké</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Plateforme de Bioinformatique Paris-Descartes, Institut Imagine, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Friend</LastName><ForeName>Kathryn</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harris</LastName><ForeName>Catharine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, University of Missouri, St Louis, MO, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goetsch</LastName><ForeName>Allison</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martin</LastName><ForeName>Beth</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boyle</LastName><ForeName>Evan August</ForeName><Initials>EA</Initials><AffiliationInfo><Affiliation>Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parrini</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mei</LastName><ForeName>Davide</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tattini</LastName><ForeName>Lorenzo</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Slavotinek</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blair</LastName><ForeName>Ed</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals, Headington, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barnett</LastName><ForeName>Christopher</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia; Discipline of Pediatrics, University of Adelaide, Adelaide, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shendure</LastName><ForeName>Jay</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Genome Sciences, University of Washington, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chelly</LastName><ForeName>Jamel</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; IGBMC, Translational Medicine and Neurogenetics Department, Illkirch, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dobyns</LastName><ForeName>William B</ForeName><Initials>WB</Initials><AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerrini</LastName><ForeName>Renzo</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address: renzo.guerrini@meyer.it.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>U54 HD083091</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS092772</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K08 NS092898</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS058721</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UL1 TR000448</GrantID><Acronym>TR</Acronym><Agency>NCATS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K08NS092898</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS058721</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>10</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Lancet Neurol</MedlineTA><NlmUniqueID>101139309</NlmUniqueID><ISSNLinking>1474-4422</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber><NameOfSubstance UI="D019869">Phosphatidylinositol 3-Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber><NameOfSubstance UI="C560566">phosphoinositol-3 kinase regulatory subunit 2, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" 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