Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Calcium Channels Mutation, Missense / genetics Pharmaceutical Preparations Phenotype Sodium

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
12 08 2020
Historique:
received: 10 07 2019
revised: 20 11 2019
accepted: 22 07 2020
entrez: 18 8 2020
pubmed: 18 8 2020
medline: 24 6 2021
Statut: ppublish

Résumé

Malfunctions of voltage-gated sodium and calcium channels (encoded by

Identifiants

DOI: 10.1126/scitranslmed.aay6848 PMID: 32801145
pubmed: 32801145
pii: 12/556/eaay6848
doi: 10.1126/scitranslmed.aay6848
pii:
doi:

Substances chimiques

Calcium Channels 0
Pharmaceutical Preparations 0
Sodium 9NEZ333N27

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH115045
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH118298
Pays : United States

Informations de copyright

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Auteurs

Henrike O Heyne (HO)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. hheyne@broadinstitute.org mark.daly@helsinki.fi.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 5WR36M Helsinki, Finland.
ORCID: 0000-0001-9893-3850

David Baez-Nieto (D)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0002-2238-8486

Sumaiya Iqbal (S)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0001-7700-4374

Duncan S Palmer (DS)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0002-0824-0047

Andreas Brunklaus (A)

Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow G51 4TF, UK.
School of Medicine, University of Glasgow, Glasgow G12 8QQ, UK.
ORCID: 0000-0002-7728-6903

Patrick May (P)

Luxembourg Centre for Systems Biomedicine, Belvaux, University of Luxembourg, 4365 Esch-sur-Alzette, Luxembourg.
ORCID: 0000-0001-8698-3770

Katrine M Johannesen (KM)

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, 4293 Dianalund, Denmark.
Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.
ORCID: 0000-0002-7356-3109

Stephan Lauxmann (S)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-9194-1716

Johannes R Lemke (JR)

Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
ORCID: 0000-0002-4435-6610

Rikke S Møller (RS)

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, 4293 Dianalund, Denmark.
Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.
ORCID: 0000-0002-9664-1448

Eduardo Pérez-Palma (E)

Cologne Center for Genomics (CCG), University of Cologne, 50923, Germany.
Genomic Medicine Institute, Lemer Research Institute Cleveland Clinic, OH G92J47, USA.
ORCID: 0000-0003-0546-5141

Ute I Scholl (UI)

Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Nephrology and Medical Intensive Care and BIH Center for Regenerative Therapies, 10178 Berlin, Germany.
Berlin Institute of Health (BIH), 10178 Berlin, Germany.
ORCID: 0000-0002-0309-8045

Steffen Syrbe (S)

Division of Pediatric Epileptology, Center for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
ORCID: 0000-0003-2543-4844

Holger Lerche (H)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
ORCID: 0000-0002-1783-8710

Dennis Lal (D)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cologne Center for Genomics (CCG), University of Cologne, 50923, Germany.
Genomic Medicine Institute, Lemer Research Institute Cleveland Clinic, OH G92J47, USA.
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH G92J47, USA.

Arthur J Campbell (AJ)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0003-3857-9727

Hao-Ran Wang (HR)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
ORCID: 0000-0001-7320-5275

Jen Pan (J)

Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Mark J Daly (MJ)

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. hheyne@broadinstitute.org mark.daly@helsinki.fi.
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 5WR36M Helsinki, Finland.
ORCID: 0000-0002-0949-8752

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Predicting functional effects of missense...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Predicting functional effects of missense...
questionsmedicales.fr › Préparations pharmaceutiques › Predicting functional effects of missense...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Predicting functional effects of missense...
questionsmedicales.fr › Produits chimiques inorganiques › Métaux › Métaux légers › Sodium › Predicting functional effects of missense...