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- Title
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
- 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
- Abstract
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 understanding the phenotypic spectrum associated with different mutations.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2013, Vol 84, Issue 10, p1107
- ISSN
1468-330X
- Publication type
Journal Article
- DOI
10.1136/jnnp-2012-304131