Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have in common two novel mutations, p.Ile215Thr and p.Gly241Val, in the first domai...

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Bibliographic Details
Main Authors: Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Neurology
Subjects:
myotonia
sodium channel myotonia
founder effect
channelopathy
Nav 1.4
mexiletine
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00255/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00255/full

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