Article
A novel locus for episodic ataxia:UBR4 the likely candidate.
European journal of human genetics : EJHG - 1 Apr 2014
Conroy Judith, McGettigan Paul, Murphy Raymond, Webb David, Murphy Sinéad M, McCoy Blathnaid, Albertyn Christine, McCreary Dara, McDonagh Cara, Walsh Orla, Lynch Sallyann, Ennis Sean
Abstract excerpt
Episodic ataxias (EAs) are rare neurological channelopathies that are characterized by spells of imbalance and a lack of co-ordination. There are seven clinically recognized EAs and multiple isolated cases. Five disease-causing genes have been identified to date. We describe a novel form of autosomal dominant EA in a large three-generation Irish family. This form of EA presents in early childhood with periods of...
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