Una nuova mutazione del gene SCN1A in una paziente affetta da epilessia mioclonica severa

Translated title of the contribution: A new SCN1A mutation in a patient affected by severe myoclonic epilepsy of infancy

C. Zucca, N. Zanotta, C. Panzeri, G. Airoldi, F. Redaelli, M. T. Bassi

Research output: Contribution to journalArticle

Abstract

We describe a patient affected by severe myoclonic epilepsy in infancy (SMEI) with a new de novo truncating SCN1A mutation. EEG features of this patients are compared with those of two other SMEI patients carrying different SCN1A mutations (one truncating, the other missense).

Translated title of the contributionA new SCN1A mutation in a patient affected by severe myoclonic epilepsy of infancy
Original languageItalian
Pages (from-to)143-144
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number129-130
Publication statusPublished - 2005

ASJC Scopus subject areas

  • Clinical Neurology

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