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Article

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.

Epileptic disorders : international epilepsy journal with videotape - 1 Oct 2020

Kim Hyo Jeong, Yang Donghwa, Kim Se Hee, Kim Borahm, Kim Heung Dong, Lee Joon Soo, Choi Jong Rak, Lee Seung-Tae, Kang Hoon-Chul

Abstract excerpt

AIMS: We aimed to delineate the phenotypic spectrum of SCN2A-related developmental and epileptic encephalopathy (DEE) and determine the effectiveness of various treatment modalities, including sodium channel blockers and the ketogenic diet. METHODS: Eleven patients with SCN2A-related DEE were included in the study. The characteristics of SCN2A mutations, electroclinical features, clinical course, and response to...

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Source

Identifiers

PMID: 33000761
DOI: 10.1684/epd.2020.1199

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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