A gain-of-function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment.

Coombs, Ian D; Ziobro, Julie; Krotov, Volodymyr; Surtees, Taryn-Leigh; Cull-Candy, Stuart G; Farrant, Mark

Coombs, Ian D; Ziobro, Julie; Krotov, Volodymyr; Surtees, Taryn-Leigh; Cull-Candy, Stuart G; Farrant, Mark.

Afiliação

Coombs ID; Department of Neuroscience, Physiology, and Pharmacology, University College London, London, UK.
Ziobro J; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
Krotov V; Department of Neuroscience, Physiology, and Pharmacology, University College London, London, UK.
Surtees TL; Department of Neurology, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.
Cull-Candy SG; Department of Neuroscience, Physiology, and Pharmacology, University College London, London, UK.
Farrant M; Department of Neuroscience, Physiology, and Pharmacology, University College London, London, UK.

Epilepsia ; 63(12): e156-e163, 2022 12.

Article em En | MEDLINE | ID: mdl-36161652

Assuntos

Transtorno do Espectro Autista; Insuficiência de Crescimento; Humanos; Lactente; Mutação com Ganho de Função; Células HEK293; Convulsões/tratamento farmacológico; Convulsões/genética

Palavras-chave

AMPA receptor; GRIA disorder; GluA2; epilepsy; perampanel

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência de Crescimento / Transtorno do Espectro Autista Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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