No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

doi:10.1016/s0920-1211(03)00022-6

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Article

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

Epilepsy research - 1 Mar 2003

Madia Francesca, Gennaro Elena, Cecconi Massimiliano, Buti Daniela, Capovilla Giuseppe, Dalla Bernardina Bernardo, Elia Maurizio, Ferrari Annarita, Fontana Elena, Gaggero Roberto, Giannotta Melania, Giordano Lucio, Granata Tiziana, La Selva Lorita, Luisa Lispi Maria, Santucci Margherita, Vanadia Francesca, Veggiotti Pierangelo, Vigliano Piernanda, Viri Maurizio, Dagna Bricarelli Franca, Bianchi Amedeo, Zara Federico

Abstract excerpt

Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated alpha-1 sodium channel subunit-SCN1A-have been identified as a common cause of SMEI. Moreover, a mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor-GABRG2-has been described in a GEFS+ family with a member affected by SMEI. In order to further...

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Identifiers

PMID: 12694927
DOI: 10.1016/s0920-1211(03)00022-6

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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