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

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

Abstract 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 Hemipleg...

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Bibliographic Details
Main Authors: Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Neurology
Subjects:
CACNA1A gene
Familial hemiplegic migraine type 1
Episodic ataxia type2
Cognitive affective syndrome, neuropsychology.
Online Access:http://link.springer.com/article/10.1186/s12883-020-01704-5

Internet

http://link.springer.com/article/10.1186/s12883-020-01704-5

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