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

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

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

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

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Genetics, Genetic Epidemiology, Genomics +21

Primary structure of the receptor for calcium channel blockers from skeletal muscle

Tsutomu Tanabe, Hiroshi Takeshima, Atsushi Mikami et al. · Nature · 1987 · 1.4K citations

Channelopathies, Muscle Function, Molecular Physiology +10

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

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1K citations · Full text

Genetics, Genetic Epidemiology, Genomics +17