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

Ahring, Philip K; Liao, Vivian W Y; Lin, Susan; Absalom, Nathan L; Chebib, Mary; Møller, Rikke S

Ahring, Philip K; Liao, Vivian W Y; Lin, Susan; Absalom, Nathan L; Chebib, Mary; Møller, Rikke S.

Afiliação

Ahring PK; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Liao VWY; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Lin S; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Absalom NL; School of Science, University of Western Sydney, Sydney, New South Wales, Australia.
Chebib M; Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.

Epilepsia ; 63(9): 2439-2441, 2022 09.

Article em En | MEDLINE | ID: mdl-35781801

Assuntos

Epilepsia Resistente a Medicamentos; Epilepsia; Epilepsia Resistente a Medicamentos/genética; Epilepsia/complicações; Epilepsia/genética; Mutação com Ganho de Função; Humanos; Fenótipo; Receptores de GABA-A/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Epilepsia Resistente a Medicamentos Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Epilepsia Resistente a Medicamentos Idioma: En Ano de publicação: 2022 Tipo de documento: Article