Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

BACKGROUND: To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migra...

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Detalles Bibliográficos
Autores principales: Nardello, Rosaria, Plicato, Giorgia, Mangano, Giuseppe Donato, Gennaro, Elena, Mangano, Salvatore, Brighina, Filippo, Raieli, Vincenzo, Fontana, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183684/
https://www.ncbi.nlm.nih.gov/pubmed/32336275
http://dx.doi.org/10.1186/s12883-020-01704-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183684/
https://www.ncbi.nlm.nih.gov/pubmed/32336275
http://dx.doi.org/10.1186/s12883-020-01704-5

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