Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

BACKGROUND AND OBJECTIVE: Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understand...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:J Neurol Neurosurg Psychiatry
Main Authors: Tomlinson, Susan Elizabeth, Rajakulendran, Sanjeev, Tan, Stella Veronica, Graves, Tracey Dawn, Bamiou, Doris-Eva, Labrum, Robyn W, Burke, David, Sue, Carolyn M, Giunti, Paola, Schorge, Stephanie, Kullmann, Dimitri M, Hanna, Michael G
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2013
Assuntos:
Movement Disorders
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4332158/
https://ncbi.nlm.nih.gov/pubmed/23349320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304131
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares