A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference5 articles.
1. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): new phenotype;Brusse;Mov Disord,2006
2. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia (corrected);Van Swieten;Am J Hum Genet,2003
3. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias;Dalski;Eur J Hum Genet,2005
4. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits;Subramony;Ann Neurol,2003
5. The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability;Laezza;J Neurosci,2007
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