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Article

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Epileptic disorders : international epilepsy journal with videotape - 1 Mar 2003

Gennaro Elena, Veggiotti Pierangelo, Malacarne Michele, Madia Francesca, Cecconi Massimiliano, Cardinali Simonetta, Cassetti Alessandra, Cecconi Ilaria, Bertini Enrico, Bianchi Amedeo, Gobbi Giuseppe, Zara Federico

Abstract excerpt

BACKGROUND: Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome has been long suspected of having a genetic origin. Recently, mutations in SCN1A and GABRG2 have been described in SMEI patients. The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myoclonic Epilepsy, Juvenile

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Receptors, GABA-A

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Source

Identifiers

PMID: 12773292

Genes

GABRG2

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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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