Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

Long-term Outcome of Cognitive Functions, Emotional Behavior, and Quality of Life in a Family With Familial Hemiplegic Migraine

(2012) Elfriede Karner et al.   Cognitive and Behavioral Neurology

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

(2011) M. Strupp et al.   NEUROLOGY

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

(2010) Julien Jung et al.   EUROPEAN 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

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

(2010) Elide Mantuano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3

(2009) J Self et al.   EYE

CACNA1A Nonsense Mutation is Associated With Basilar-Type Migraine and Episodic Ataxia Type 2

(2009) Matthew S. Robbins et al.   HEADACHE

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

(2009) P Bertholon et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2

(2008) Florence Riant et al.   ARCHIVES OF NEUROLOGY

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Axonal function in a family with episodic ataxia type 2 due to a novel mutation

(2008) A. V. Krishnan et al.   JOURNAL OF NEUROLOGY

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

(2008) Andrea A. Guerin et al.   PEDIATRIC NEUROLOGY