Mutazione di SCN1A in un caso di sindrome di Lennox-Gastaut con pregressa sindrome di West ad eziologia sconosciuta

Translated title of the contribution: SCN1A mutation in a patient with Lennox-Gastaut syndrome and previous west syndrome with unknown etiology

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

Research output: Contribution to journalArticlepeer-review

Abstract

We report a family with a novel SCN1A mutation segregating in the proband and inherited from the paternal line. The proband had West syndrome (WS) in infancy, and later developed Lennox Gastaut syndrome (LGS). In the paternal line, there is only one affected member who had febrile seizures Epileptic phenotype was also present in the maternal line. We thus hypothesize a complex system of genetic expression with possible involvement of other genes. SCN1A mutations have been occasionally associated with LGS, but this is the first report of an association with WS.

Translated title of the contributionSCN1A mutation in a patient with Lennox-Gastaut syndrome and previous west syndrome with unknown etiology
Original languageItalian
Pages (from-to)93-95
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number140
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Clinical Neurology

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