BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

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

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

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine

(2015) S. Kinder et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2014) Wolfgang Nachbauer et al.   JOURNAL OF NEUROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine