Epilepsy and episodic ataxia type 2: family study and review of the literature

The electrophysiological footprint of CACNA1A disorders

(2021) Elisabetta Indelicato et al.   JOURNAL OF NEUROLOGY

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

(2018) Chloé Angelini et al.   European Journal of Medical Genetics

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Pearls & Oy-sters: Episodic ataxia type 2

(2016) Elan L. Guterman et al.   NEUROLOGY

The Role of Calcium Channels in Epilepsy

(2016) Sanjeev Rajakulendran et al.   Cold Spring Harbor Perspectives in Medicine

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

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

Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population

(2015) Nan Lv et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

CaV2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures

(2013) Elsa Rossignol et al.   ANNALS OF NEUROLOGY

Consensus Paper: Management of Degenerative Cerebellar Disorders

(2013) W. Ilg et al.   CEREBELLUM

Hippocampal tissue of patients with refractory temporal lobe epilepsy is associated with astrocyte activation, inflammation, and altered expression of channels and receptors

(2012) A. Das et al.   NEUROSCIENCE

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

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

(2010) Sanjeev Rajakulendran et al.   JOURNAL OF PHYSIOLOGY-LONDON

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