Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report

BACKGROUND: Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its α-subunit, have been linked to several neurological features, including intellectual disability or autism. Associated with neurodevelopmental phenotypes, sensory func...

Descripción completa

Detalles Bibliográficos
Autores principales: Perche, Olivier, Lesne, Fabien, Patat, Alain, Raab, Susanne, Twyman, Roy, Ring, Robert H., Briault, Sylvain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069818/
https://www.ncbi.nlm.nih.gov/pubmed/35509069
http://dx.doi.org/10.1186/s13256-022-03387-7

Ejemplares similares

Ejemplares similares