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...

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Dades bibliogràfiques
Publicat a:J Neurol Neurosurg Psychiatry
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2013
Matèries:
Movement Disorders
Accés en línia: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
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