A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions-Reference-Cited by-同舟云学术

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions

Published:2017-09 Issue: Volume:83 Page:6-12
ISSN:1044-7431
Container-title:Molecular and Cellular Neuroscience
language:en
Short-container-title:Molecular and Cellular Neuroscience

Author:

Imbrici Paola^ORCID,Altamura Concetta,Gualandi Francesca,Mangiatordi Giuseppe Felice,Neri Marcella,De Maria Giovanni,Ferlini Alessandra,Padovani Alessandro,D'Adamo Maria Cristina,Nicolotti Orazio,Pessia Mauro,Conte Diana,Filosto Massimiliano,Desaphy Jean-Francois

Publisher

Elsevier BV

Subject

Cell Biology,Cellular and Molecular Neuroscience,Molecular Biology

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5. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations;Brownstein;Neurogenetics,2016

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