A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.

Epilepsy / genetics Humans Mutation, Missense / genetics Neurodevelopmental Disorders / genetics Phenotype Receptors, GABA-A / genetics Seizures / genetics
Drug-resistant epilepsy GABAA receptors early-onset epilepsy neurosteroid tonic inhibition trio exome sequencing

Journal

Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R

Informations de publication

Date de publication:
04 2022
Historique:
revised: 06 01 2022
received: 25 08 2021
accepted: 31 01 2022
pubmed: 14 2 2022
medline: 14 4 2022
entrez: 13 2 2022
Statut: ppublish

Résumé

Variants in γ-aminobutyric acid A (GABA

Identifiants

DOI: 10.1111/epi.17188 PMID: 35152403 PMC: PMC9304230
pubmed: 35152403
doi: 10.1111/epi.17188
pmc: PMC9304230
doi:

Substances chimiques

GABRA4 protein, human 0
Receptors, GABA-A 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

e35-e41

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2022 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

Références

Curr Opin Neurol. 2019 Apr;32(2):183-190
pubmed: 30664068
eNeuro. 2017 Feb 10;4(1):
pubmed: 28197552
Neuron. 2012 Jan 12;73(1):23-34
pubmed: 22243744
J Biol Chem. 1999 Jul 9;274(28):19613-6
pubmed: 10391897
Brain Res. 2019 Jul 1;1714:234-247
pubmed: 30851244
Neuron. 2016 Jan 6;89(1):37-53
pubmed: 26687838
J Med Genet. 2020 Sep;57(9):624-633
pubmed: 32086284
Epilepsia. 2022 Apr;63(4):e35-e41
pubmed: 35152403
Brain. 2018 Aug 1;141(8):2392-2405
pubmed: 29961870
Hum Mol Genet. 2004 Jul 1;13(13):1315-9
pubmed: 15115768
Brain. 2022 May 24;145(4):1299-1309
pubmed: 34633442
Sci Rep. 2020 Feb 11;10(1):2379
pubmed: 32047208
Ann Neurol. 2015 Jun;77(6):972-86
pubmed: 25726841
Am J Hum Genet. 2019 Aug 1;105(2):267-282
pubmed: 31327507
Clin Exp Pharmacol Physiol. 2010 Jul;37(7):662-9
pubmed: 20337660
Front Endocrinol (Lausanne). 2020 Sep 30;11:541802
pubmed: 33117274
Proc Natl Acad Sci U S A. 2005 Aug 16;102(33):11894-9
pubmed: 16091474
Mol Autism. 2020 Feb 7;11(1):13
pubmed: 32033586
Nat Struct Mol Biol. 2017 Nov;24(11):977-985
pubmed: 28967882
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Lancet Neurol. 2018 Aug;17(8):699-708
pubmed: 30033060

Auteurs

Florian D Vogel (FD)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
ORCID: 0000-0002-5572-217X

Martin Krenn (M)

Department of Neurology, Medical University of Vienna, Vienna, Austria.
Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
ORCID: 0000-0003-3026-3082

Dominik S Westphal (DS)

Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Department of Internal Medicine I, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
ORCID: 0000-0003-4870-9863

Elisabeth Graf (E)

Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.

Matias Wagner (M)

Institute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.
Division of Pediatric Neurology, LMU Center for Development and Children with Medical Complexity, Ludwig-Maximilians-University Munich, Munich, Germany.
ORCID: 0000-0002-4454-8823

Steffen Leiz (S)

Divison of Neuropediatrics, Klinikum Dritter Orden, Munich, Germany.

Filip Koniuszewski (F)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
ORCID: 0000-0001-5946-3147

Maximilian Augé-Stock (M)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.

Georg Kramer (G)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.

Petra Scholze (P)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
ORCID: 0000-0003-4984-6034

Margot Ernst (M)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
ORCID: 0000-0002-9809-2649

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs aux neuromédiateurs › Récepteurs aux acides aminés › Récepteurs GABA › Récepteurs GABA-A › A de novo missense variant in GABRA4 alters...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › A de novo missense variant in GABRA4 alters...