Publications:

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN1A: S1768R

PubMed Link: 33013363

Variant Present in the following documents:

• Main text

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Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Molecular Syndromology

Willemsen, M H MH; Rensen, J H M JH; van Schrojenstein-Lantman de Valk, H M J HM; Hamel, B C J BC; Kleefstra, T T

Publication Date: 2012-04

Variant appearance in text: SCN1A: 5304T>G; Ser1768Arg

PubMed Link: 22670143

Variant Present in the following documents:

• Main text

View BVdb publication page