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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Movement Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332158/
https://www.ncbi.nlm.nih.gov/pubmed/23349320
http://dx.doi.org/10.1136/jnnp-2012-304131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332158/
https://www.ncbi.nlm.nih.gov/pubmed/23349320
http://dx.doi.org/10.1136/jnnp-2012-304131

Ejemplares similares