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Article

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Epilepsy research - 1 May 2003

Sugawara Takashi, Tsurubuchi Yuji, Fujiwara Tateki, Mazaki-Miyazaki Emi, Nagata Keiichi, Montal Mauricio, Inoue Yushi, Yamakawa Kazuhiro

Abstract excerpt

Severe myoclonic epilepsy in infancy (SMEI) is characterized by intractable febrile and afebrile seizures, severe mental decline, and onset during the first year of life. Nonsense, frameshift, and missense mutations of SCN1A gene encoding the voltage-gated Na(+) channel alpha-subunit type I (Na(v...

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Identifiers

PMID: 12837571
DOI: 10.1016/s0920-1211(03)00084-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12837571-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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