A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons

(2014) Haidun Yan et al.   eLife

A novel locus for episodic ataxia:UBR4 the likely candidate

(2013) Judith Conroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

(2013) J.A. Coebergh et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

FGF14 Regulates Presynaptic Ca2+ Channels and Synaptic Transmission

(2013) Haidun Yan et al.   Cell Reports

Recent Advances in the Genetics of Cerebellar Ataxias

(2012) Anna Sailer et al.   Current Neurology and Neuroscience Reports

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

(2012) Joshua Hersheson et al.   HUMAN MUTATION

Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

(2012) Zhao Chen et al.   NEUROSCIENCE LETTERS

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia

(2011) Keiko Shimojima et al.   BRAIN & DEVELOPMENT

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

(2011) Swati Naik et al.   PEDIATRIC NEUROLOGY

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

(2010) R. Romaniello et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

(2009) Fernanda Laezza et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A novelKCNA1mutation associated with global delay and persistent cerebellar dysfunction

(2009) Michelle K. Demos et al.   MOVEMENT DISORDERS

SCA27 caused by a chromosome translocation: further delineation of the phenotype

(2009) D. Misceo et al.   NEUROGENETICS

FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons

(2008) Vikram G. Shakkottai et al.   NEUROBIOLOGY OF DISEASE