Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect-Reference-Cited by-同舟云学术

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

Published:2024-06 Issue:6 Volume:111 Page:1184-1205
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yang Fang,Begemann Anais,Reichhart Nadine,Haeckel Akvile,Steindl Katharina,Schellenberger Eyk,Sturm Ronja Fini,Barth Magalie,Bassani Sissy,Boonsawat Paranchai,Courtin Thomas,Delobel Bruno,Gunning Boudewijn,Hardies Katia,Jennesson Mélanie,Legoff Louis,Linnankivi Tarja,Prouteau Clément,Smal Noor,Spodenkiewicz Marta,Toelle Sandra P.,Van Gassen Koen,Van Paesschen Wim,Verbeek Nienke,Ziegler Alban,Zweier Markus,Horn Anselm H.C.,Sticht Heinrich,Lerche Holger,Weckhuysen Sarah,Strauß Olaf,Rauch Anita

Funder

University of Zurich

Wellcome Trust

Janssen Pharmaceutica

FWO

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

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4. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study;Papuc;Eur. J. Hum. Genet.,2019

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1. Reply to: Comment on Soft cerebellar signs unveil RARS2‐related epilepsy;Epileptic Disorders;2024-06-29