Mutazioni di SCN1A in un caso di epilessia temporale con sclerosi dell'ippocampo e familiarità per convulsioni febbrili

Translated title of the contribution: SCN1A mutations in a case of temporal lobe epilepsy with hippocampal sclerosis and familial febrile convulsions

N. Zanotta, R. Epifanio, F. Redaelli, M. T. Bassi, C. Zucca

Research output: Contribution to journalArticle

Abstract

We report a case of temporal lobe epilepsy (TLE) with hippocampal sclerosis and familial febrile convulsions (6 subjects including the patient) in whom two sodium channel alpha-subunit (SCN1A) gene mutations were detected (one never reported). Our data confirm that SCN1A mutations can be responsible for febrile seizures (FS) and TLE further than generalized epilepsy with FS plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).

Translated title of the contributionSCN1A mutations in a case of temporal lobe epilepsy with hippocampal sclerosis and familial febrile convulsions
Original languageItalian
Pages (from-to)151-152
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number138
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Clinical Neurology

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