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Article

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

Brain & development - 1 Oct 2003

Ohmori Iori, Ohtsuka Yoko, Ouchida Mamoru, Ogino Tatsuya, Maniwa Satoshi, Shimizu Kenji, Oka Eiji

Abstract excerpt

We classified 28 patients with severe myoclonic epilepsy in infancy (SME) according to the presence or absence of myoclonic seizures and/or atypical absences. Eleven of the patients had myoclonic seizures and/or atypical absences, and we refer to this condition as 'typical SME (TSME)'. Seventeen...

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Identifiers

PMID: 13129592
DOI: 10.1016/s0387-7604(03)00038-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-13129592-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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