4.2 Article

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

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

Lena Damaj et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

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

Martin Kircher et al.

NATURE GENETICS (2014)

Article Clinical Neurology

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

Elide Mantuano et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

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

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Genetics & Heredity

The Human Gene Mutation Database: 2008 update

Peter D. Stenson et al.

GENOME MEDICINE (2009)

Review Clinical Neurology

Episodic ataxia type 2

Michael Strupp et al.

NEUROTHERAPEUTICS (2007)