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A structural look at GABAA receptor mutations linked to epilepsy syndromes.
Hernandez, Ciria C; Macdonald, Robert L.
Afiliación
  • Hernandez CC; Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA. Electronic address: ciria@umich.edu.
  • Macdonald RL; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Brain Res ; 1714: 234-247, 2019 07 01.
Article en En | MEDLINE | ID: mdl-30851244
Understanding the genetic variation in GABAA receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through identification of disease-associated variants. However, the lack of functional analysis and validation of many novel and previously reported familial and de novo mutations have made it challenging to address meaningful gene associations with epilepsy syndromes. GABAA receptors belong to the Cys-loop receptor family. Even though GABAA receptor mutant residues are widespread among different GABRs, their frequent occurrence in important structural domains that share common functional features suggests associations between structure and function.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de GABA-A / Síndromes Epilépticos Límite: Humans Idioma: En Revista: Brain Res Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de GABA-A / Síndromes Epilépticos Límite: Humans Idioma: En Revista: Brain Res Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos