Genetic heterogeneity in infantile spasms.

Child, Preschool GTP-Binding Protein alpha Subunits, Gi-Go / genetics Humans Infant Kinesins / genetics Monosaccharide Transport Proteins / genetics Mutation / genetics Receptors, Cytoplasmic and Nuclear / genetics Repressor Proteins / genetics Shab Potassium Channels / genetics Spasms, Infantile / diagnosis
Epilepsy Genetic diagnosis Infantile spasms Targeted sequencing West syndrome

Journal

Epilepsy research
ISSN: 1872-6844
Titre abrégé: Epilepsy Res
Pays: Netherlands
ID NLM: 8703089

Informations de publication

Date de publication:
10 2019
Historique:
received: 11 06 2019
accepted: 27 07 2019
pubmed: 9 8 2019
medline: 23 7 2020
entrez: 9 8 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.eplepsyres.2019.106181 PMID: 31394400 PMC: PMC6814289
pubmed: 31394400
pii: S0920-1211(19)30337-7
doi: 10.1016/j.eplepsyres.2019.106181
pmc: PMC6814289
mid: NIHMS1539471
pii:
doi:

Substances chimiques

GNAO1 protein, human 0
KCNB1 protein, human 0
KIF1A protein, human 0
Monosaccharide Transport Proteins 0
Receptors, Cytoplasmic and Nuclear 0
Repressor Proteins 0
Shab Potassium Channels 0
TBL1XR1 protein, human 0
UDP-galactose translocator 0
Kinesins EC 3.6.4.4
GTP-Binding Protein alpha Subunits, Gi-Go EC 3.6.5.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

106181

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS069605
Pays : United States

Informations de copyright

Copyright © 2019. Published by Elsevier B.V.

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Auteurs

Alison M Muir (AM)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Candace T Myers (CT)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Nancy T Nguyen (NT)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Julia Saykally (J)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Dana 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.

Peter 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.

Ingo 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.

Dorota Hoffman-Zacharska (D)

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Institute of Genetics and Biotechnology, Warsaw University, Warsaw, Poland.

Renzo Guerrini (R)

Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence 50139, Italy.

Anna-Elina Lehesjoki (AE)

Folkhälsan Research Center and Medical Faculty, University of Helsinki, Helsinki 00290, Finland.

Carla Marini (C)

Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Florence 50139, Italy.

Rikke S Møller (RS)

Danish Epilepsy Centre, Dianalund 4293, Denmark; Institute for Regional Health research, University of Southern Denmark, Odense 5230, Denmark.

Jose Serratosa (J)

Department of Neurology, Neurology Lab and Epilepsy Unit, IIS-Fundación Jiménez Díaz UAM and CIBERER, Madrid 28040, Spain.

Katalin Štěrbová (K)

Child Neurology Department, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Pasquale 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.

Sarah 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.

Sarah 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.

Heather C Mefford (HC)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines G hétérotrimériques › Sous-unités alpha des protéines G › Sous-unités alpha Gi-Go des protéines G › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Kinésine › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Transporteurs de monosaccharides › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Récepteurs cytoplasmiques et nucléaires › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques voltage-dépendants › Canaux potassiques de la superfamille Shaker › Canaux potassiques Shab › Genetic heterogeneity in infantile spasms.
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Syndromes épileptiques › Spasmes infantiles › Genetic heterogeneity in infantile spasms.