The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

CACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central ner...

Descripción completa

Detalles Bibliográficos
Autores principales: Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871581/
https://www.ncbi.nlm.nih.gov/pubmed/33557884
http://dx.doi.org/10.1186/s13041-021-00745-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871581/
https://www.ncbi.nlm.nih.gov/pubmed/33557884
http://dx.doi.org/10.1186/s13041-021-00745-2

Ejemplares similares