Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients-Reference-Cited by-同舟云学术

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Published:2020-07-29 Issue: Volume:11 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Maggi Lorenzo,Brugnoni Raffaella,Canioni Eleonora,Tonin Paola,Saletti Veronica,Sola Patrizia,Piccinelli Stefano Cotti,Colleoni Lara,Ferrigno Paola,Pini Antonella,Masson Riccardo,Manganelli Fiore,Lietti Daniele,Vercelli Liliana,Ricci Giulia,Bruno Claudio,Tasca Giorgio,Pizzuti Antonio,Padovani Alessandro,Fusco Carlo,Pegoraro Elena,Ruggiero Lucia,Ravaglia Sabrina,Siciliano Gabriele,Morandi Lucia,Dubbioso Raffaele,Mongini Tiziana,Filosto Massimiliano,Tramacere Irene,Mantegazza Renato,Bernasconi Pia

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

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1. A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia;Journal of Neuromuscular Diseases;2024-04-30

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3. Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia;Epilepsia Open;2024-03-27

4. Diagnostics in skeletal muscle channelopathies;Expert Review of Molecular Diagnostics;2023-11-29

5. Muscle channelopathies: A review;Annals of the Child Neurology Society;2023-10-10