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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Neurol Neurosurg Psychiatry
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2013
Soggetti:
Movement Disorders
Accesso online: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: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi