Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

(2018) Céline Bris et al.   Frontiers in Genetics

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

(2017) Cèlia Sintas et al.   Scientific Reports

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

(2015) Maria Cristina D’Adamo et al.   Frontiers in Cellular Neuroscience

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

(2014) Wolfgang Nachbauer et al.   JOURNAL OF NEUROLOGY

RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2

(2014) Julie Salvi et al.   NEUROBIOLOGY OF DISEASE

Phenotypic Variability in a Four Generation Family With a p.Thr666Met CACNA1A Gene Mutation

(2014) María García-Baró-Huarte et al.   PEDIATRIC NEUROLOGY

K+ channelepsy: progress in the neurobiology of potassium channels and epilepsy

(2013) Maria Cristina D'Adamo et al.   Frontiers in Cellular Neuroscience

Calcium channels and migraine

(2012) Daniela Pietrobon   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

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

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

(2008) Ichiro Yabe et al.   JOURNAL OF NEUROLOGY

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

(2008) Tracey D. Graves et al.   NEUROBIOLOGY OF DISEASE