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Article

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Scientific reports - 24 Jun 2020

Kluckova Daniela, Kolnikova Miriam, Lacinova Lubica, Jurkovicova-Tarabova Bohumila, Foltan Tomas, Demko Viktor, Kadasi Ludevit, Ficek Andrej, Soltysova Andrea

Abstract excerpt

Mutations in the voltage-gated sodium channel Nav1.1 (SCN1A) are linked to various epileptic phenotypes with different severities, however, the consequences of newly identified SCN1A variants on patient phenotype is uncertain so far. The functional impact of nine SCN1A variants, including five novel variants identified in this study, was studied using whole-cell patch-clamp recordings measurement of mutant Nav1.1...

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Identifiers

PMID: 32581296
DOI: 10.1038/s41598-020-67215-y
PMCID: PMC7314844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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