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Article

Insights into clinical phenotypes and treatment responses in a Small cohort of Taiwanese patients with SCN1A variants: A Preliminary study.

Pediatrics and neonatology - 1 May 2025

Syu Yu Min, Lee Inn-Chi, Lu Jyh-Feng, Hung Pi-Lien, Hong Syuan-Yu, Yang Ming-Tao, Liang Jao-Shwann

Abstract excerpt

BACKGROUND: SCN1A channelopathy is the most well-known cause for epileptic encephalopathies and contributes to a wide phenotypic spectrum. The variable expressivity is troublesome for the interpretation of clinical significance and prognoses. To investigate the clinical manifestations, medications and outcomes of patients with SCN1A channelopathies, we conducted this observation retrospective study in Taiwan....

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Identifiers

PMID: 39181834
DOI: 10.1016/j.pedneo.2024.03.013

Genes

SCN1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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