Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome

Hyperekplexia is a rare neurological disorder characterized by exaggerated startle responses affecting newborns with the hallmark characteristics of hypertonia, apnea, and noise or touch-induced nonepileptic seizures. The genetic causes of the disease can vary, and several associated genes and mutat...

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Detalles Bibliográficos
Autores principales: Aboheimed, Ghada I., AlRasheed, Maha M., Almudimeegh, Sultan, Peña-Guerra, Karla A., Cardona-Londoño, Kelly J., Salih, Mustafa A., Seidahmed, Mohammed Z., Al-Mohanna, Futwan, Colak, Dilek, Harvey, Robert J., Harvey, Kirsten, Arold, Stefan T., Kaya, Namik, Ruiz, Arnaud J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241032/
https://www.ncbi.nlm.nih.gov/pubmed/35526563
http://dx.doi.org/10.1016/j.jbc.2022.102018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9241032/
https://www.ncbi.nlm.nih.gov/pubmed/35526563
http://dx.doi.org/10.1016/j.jbc.2022.102018

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