Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

(2016) Gabriela David-Morrison et al.   DEVELOPMENTAL CELL

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

(2016) Jianping Wu et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

(2016) Derek L. Weyhrauch et al.   PEDIATRIC NEUROLOGY

Uncoupling neuronal death and dysfunction in Drosophila models of neurodegenerative disease

(2016) Amit K. Chouhan et al.   Acta Neuropathologica Communications

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN 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

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A Voltage-Gated Calcium Channel Regulates Lysosomal Fusion with Endosomes and Autophagosomes and Is Required for Neuronal Homeostasis

(2015) Xuejun Tian et al.   PLOS BIOLOGY

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Large-scale identification of chemically induced mutations inDrosophila melanogaster

(2014) Nele A. Haelterman et al.   GENOME RESEARCH

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

(2014) Nuria García Segarra et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

(2014) Michael F. Wangler et al.   PLoS Genetics

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

(2011) Swati Naik et al.   PEDIATRIC NEUROLOGY

Voltage-Gated Calcium Channels

(2011) W. A. Catterall   Cold Spring Harbor Perspectives in Biology

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

(2010) Lubov Blumkin et al.   JOURNAL OF CHILD NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

CaV2.1 channelopathies

(2010) Daniela Pietrobon   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The S218L familial hemiplegic migraine mutation promotes deinhibition of Cav2.1 calcium channels during direct G-protein regulation

(2008) Norbert Weiss et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY