The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits

EpilepsiaEarly View Letter The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits Philip K. Ahring, Corresponding Author Philip K. Ahring philip.ahring@sydney.edu.au orcid.org/0000-0003-1807-3331 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorVivian W. Y. Liao, Vivian W. Y. Liao orcid.org/0000-0001-8608-0563 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorSusan Lin, Susan Lin orcid.org/0000-0003-3587-0957 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorNathan L. Absalom, Nathan L. Absalom orcid.org/0000-0002-6084-5991 School of Science, University of Western Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorMary Chebib, Mary Chebib orcid.org/0000-0001-6204-3178 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorRikke S. Møller, Corresponding Author Rikke S. Møller rimo@filadelfia.dk orcid.org/0000-0002-9664-1448 Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark Department of Regional Health Research, University of Southern Denmark, Odense, DenmarkSearch for more papers by this author Philip K. Ahring, Corresponding Author Philip K. Ahring philip.ahring@sydney.edu.au orcid.org/0000-0003-1807-3331 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorVivian W. Y. Liao, Vivian W. Y. Liao orcid.org/0000-0001-8608-0563 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorSusan Lin, Susan Lin orcid.org/0000-0003-3587-0957 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorNathan L. Absalom, Nathan L. Absalom orcid.org/0000-0002-6084-5991 School of Science, University of Western Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorMary Chebib, Mary Chebib orcid.org/0000-0001-6204-3178 Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorRikke S. Møller, Corresponding Author Rikke S. Møller rimo@filadelfia.dk orcid.org/0000-0002-9664-1448 Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark Department of Regional Health Research, University of Southern Denmark, Odense, DenmarkSearch for more papers by this author First published: 04 July 2022 https://doi.org/10.1111/epi.17358 We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Early ViewOnline Version of Record before inclusion in an issue RelatedInformation