De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism

(2021) Jacqueline Peng et al.   Scientific Reports

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

(2021) Konrad J. Karczewski et al.   NATURE

Ion Channel Functions in Early Brain Development

(2020) Richard S. Smith et al.   TRENDS IN NEUROSCIENCES

Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review

(2020) Xiaoli Liao et al.   Molecular Brain

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

(2020) Francesca Cristofoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

(2020) Gabriella Vera et al.   European Journal of Medical Genetics

Developmental and epileptic encephalopathies: what we do and do not know

(2020) Nicola Specchio et al.   BRAIN

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E

(2019) Gemma L. Carvill   Epilepsy Currents

Genetic intolerance analysis as a tool for protein science

(2019) Geoffrey C. Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

(2019) Xiao Jiang et al.   EPILEPSIA

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

(2018) Katherine L. Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

(2017) Robert S. Fisher et al.   EPILEPSIA

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes

(2017) Anna Ambrosini et al.   HEADACHE

Voltage-gated calcium channels: Novel targets for cancer therapy

(2017) Nam Nhut Phan et al.   Oncology Letters

Opposite Associations Between the rs3845446 Single-Nucleotide Polymorphism of the CACNA1E Gene and Postoperative Pain-Related Phenotypes in Gastrointestinal Surgery Versus Previously Reported Orthognathic Surgery

(2016) Kojiro Amano et al.   JOURNAL OF PAIN

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

(2015) F. Miceli et al.   JOURNAL OF NEUROSCIENCE

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

RGK regulation of voltage-gated calcium channels

(2015) Zafir Buraei et al.   Science China-Life Sciences

Voltage-gated Calcium Channels and Autism Spectrum Disorders

(2015) Alexandra Breitenkamp et al.   Current Molecular Pharmacology

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

Control of neuronal voltage-gated calcium ion channels from RNA to protein

(2013) Diane Lipscombe et al.   TRENDS IN NEUROSCIENCES

Quantitative Regional and Ultrastructural Localization of the Cav2.3 Subunit of R-type Calcium Channel in Mouse Brain

(2012) L. K. Parajuli et al.   JOURNAL OF NEUROSCIENCE

CACNA1E Variants Affect Beta Cell Function in Patients with Newly Diagnosed Type 2 Diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 3

(2012) Maddalena Trombetta et al.   PLoS One

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Voltage-Gated Calcium Channels

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