Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

ANO4 Ca(2+)-dependent ion channel GEFS+ TMEM16D anoctamin developmental and epileptic encephalopathy phospholipid scramblase temporal lobe epilepsy

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
10 May 2024
Historique:
received: 17 11 2023
revised: 17 04 2024
accepted: 18 04 2024
medline: 15 5 2024
pubmed: 15 5 2024
entrez: 14 5 2024
Statut: aheadofprint

Résumé

Anoctamins are a family of Ca

Identifiants

DOI: 10.1016/j.ajhg.2024.04.014 PMID: 38744284
pubmed: 38744284
pii: S0002-9297(24)00129-0
doi: 10.1016/j.ajhg.2024.04.014
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests K.H. is currently employed by Janssen Research & Development, Janssen Pharmaceutica N.V., Turnhoutseweg 30, Beerse B-2340, Belgium.

Auteurs

Fang Yang (F)

Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Anais Begemann (A)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Nadine Reichhart (N)

Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Akvile Haeckel (A)

Institute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Katharina Steindl (K)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Eyk Schellenberger (E)

Institute for Radiology and Children's Radiology, Charité-Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Ronja Fini Sturm (RF)

Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Magalie Barth (M)

University Hospital of Angers, Department of Genetics, Angers, France.

Sissy Bassani (S)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Paranchai Boonsawat (P)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Thomas Courtin (T)

Sorbonne Université, INSERM, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, 75013 Paris, France; Hôpital Pitié-Salpêtrière, DMU BioGe'M, AP-HP, 75013 Paris, France.

Bruno Delobel (B)

Service de Cytogénétique, GH de l'Institut Catholique de Lille, Hopital Saint Vincent de Paul, Lille, France.

Boudewijn Gunning (B)

Stichting Epilepsie Instellingen Nederland, Zwolle, the Netherlands.

Katia Hardies (K)

Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium.

Mélanie Jennesson (M)

Department of Pediatrics, CHU, Reims, France.

Louis Legoff (L)

University Hospital of Angers, Department of Genetics, Angers, France.

Tarja Linnankivi (T)

Epilepsia Helsinki, University of Helsinki and Helsinki University Hospital, 00029 HUS Helsinki, Finland; Department of Pediatric Neurology and Pediatric Research Center, New Children's Hospital, Helsinki University Hospital and University of Helsinki, 00029 HUS Helsinki, Finland.

Clément Prouteau (C)

University Hospital of Angers, Department of Genetics, Angers, France.

Noor Smal (N)

Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium.

Marta Spodenkiewicz (M)

Department of Genetics, La Réunion University Hospital, Saint-Pierre, France.

Sandra P Toelle (SP)

Department of Pediatric Neurology, Children's University Hospital Zurich, Zurich, Switzerland.

Koen Van Gassen (K)

University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.

Wim Van Paesschen (W)

Laboratory for Epilepsy Research, KU Leuven, and Neurology Department, University Hospitals Leuven, 3000 Leuven, Belgium.

Nienke Verbeek (N)

University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands.

Alban Ziegler (A)

University Hospital of Angers, Department of Genetics, Angers, France.

Markus Zweier (M)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

Anselm H C Horn (AHC)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Heinrich Sticht (H)

Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Holger Lerche (H)

Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Sarah Weckhuysen (S)

Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium.

Olaf Strauß (O)

Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a Corporate Member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

Anita Rauch (A)

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Children's University Hospital Zurich, Zurich, Switzerland. Electronic address: anita.rauch@medgen.uzh.ch.

Classifications MeSH