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Genetic heterogeneity in infantile spasms.
Muir, Alison M; Myers, Candace T; Nguyen, Nancy T; Saykally, Julia; Craiu, Dana; De Jonghe, Peter; Helbig, Ingo; Hoffman-Zacharska, Dorota; Guerrini, Renzo; Lehesjoki, Anna-Elina; Marini, Carla; Møller, Rikke S; Serratosa, Jose; Sterbová, Katalin; Striano, Pasquale; von Spiczak, Sarah; Weckhuysen, Sarah; Mefford, Heather C.
Afiliação
  • Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Nguyen NT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Saykally J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Craiu D; Department of Clinical Neurosciences and Pediatric Neurology Clinic, "Carol Davila" University of Medicine, Al. Obregia Hospital, Bucharest 050474, Romania; Pediatric Neurology Clinic Alexandru Obregia Hospital Bucharest Romania.
  • De Jonghe P; Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp 2610, Belgium; Institute Born Bunge, University of Antwerp, Antwerp 2610, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp 2650, Belgium.
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel 24105, Germany.
  • Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Institute of Genetics and Biotechnology, Warsaw University, Warsaw, Poland.
  • Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence 50139, Italy.
  • Lehesjoki AE; Folkhälsan Research Center and Medical Faculty, University of Helsinki, Helsinki 00290, Finland.
  • Marini C; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence 50139, Italy.
  • Møller RS; Danish Epilepsy Centre, Dianalund 4293, Denmark; Institute for Regional Health research, University of Southern Denmark, Odense 5230, Denmark.
  • Serratosa J; Department of Neurology, Neurology Lab and Epilepsy Unit, IIS-Fundación Jiménez Díaz UAM and CIBERER, Madrid 28040, Spain.
  • Sterbová K; Child Neurology Department, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.
  • Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genova 16147, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova 16132, Italy.
  • von Spiczak S; Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel 24105, Germany; Northern German Epilepsy Center for Children and Adolescents, Schwentinental-Raisdorf, 24223, Germany.
  • Weckhuysen S; Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp 2610, Belgium; Institute Born Bunge, University of Antwerp, Antwerp 2610, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp 2650, Belgium.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
Epilepsy Res ; 156: 106181, 2019 10.
Article em En | MEDLINE | ID: mdl-31394400
ABSTRACT
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Cinesinas / Receptores Citoplasmáticos e Nucleares / Canais de Potássio Shab Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant Idioma: En Revista: Epilepsy Res Assunto da revista: CEREBRO / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Cinesinas / Receptores Citoplasmáticos e Nucleares / Canais de Potássio Shab Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant Idioma: En Revista: Epilepsy Res Assunto da revista: CEREBRO / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos