Article
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2013
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 excerpt
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 understanding the phenotypic spectrum associated with different mutations. METHODS: 15 affected individuals from four families...
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