Nuova mutazione missense de novo del gene SCN1A: Descrizione di un caso clinico associato a epilessia GEFS plus con prognosi benigna

Translated title of the contribution: De novo missense mutation in SCN1A: A case report of GEFS plus with good prognosis

G. De Polo, A. Liava, A. Martinuzzi, E. Frate, E. Gennaro

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the case of a child with a de novo missense mutation in the "pore region" - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).

Translated title of the contributionDe novo missense mutation in SCN1A: A case report of GEFS plus with good prognosis
Original languageItalian
Pages (from-to)151-154
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number129-130
Publication statusPublished - 2005

ASJC Scopus subject areas

  • Clinical Neurology

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