Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D1
Variant:p.G209D
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CACNA2D1

NM_000722.4:p.G209D

Associated Papers

A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Silverman A et al.

Pediatric Neurology, 2024

Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.

Hessenberger M et al.

Handbook of Experimental Pharmacology, 2023

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Dahimene S et al.

Brain : a Journal of Neurology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."