Genotype-phenotype correlations in a group of 15 SCN1A-mutated italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)

Francesco Nicita, Alberto Spalice, Laura Papetti, Fabiana Ursitti, Pasquale Parisi, Elena Gennaro, Federico Zara, Paola Iannetti

Research output: Contribution to journalArticle

Abstract

Mutations in SCN1A gene have been associated with the spectrum of generalized/genetic epilepsy with febrile seizures plus. Recently, databases reporting SCN1A mutations and clinical details of patients have been created to facilitate genotype- phenotype correlations, actually not completely defined, particularly if a specific mutation underlies phenotypes. We report on a group of 15 patients with clinical features of GEFS+ (3), classical (7), or borderline severe myoclonic epilepsy of infancy (5), in whom genetic analysis of patients and parents and follow-up period were performed to establish genotype-phenotype correlations, to enrich literature and databases data. We found 11 pathogenic mutations (5 novel: c.80 G>C exon 1; c.187 T>C exon 1; c.3061 G>T exon 16; c.4297 G>A exon 22; c.5579 delA ins TCTCC exon 26) and 4 novel nucleotidic variants (IVS5+38 C>T intron 5; IVS8-19 C>T intron 18; c.4945 C>T exon 25; c.5127 C>A exon 26). Paternal inheritance was observed in 4/4 cases.

Original languageEnglish
Pages (from-to)1369-1376
Number of pages8
JournalJournal of Child Neurology
Volume25
Issue number11
DOIs
Publication statusPublished - Nov 2010

Keywords

  • Dravet syndrome
  • genotype-phenotype
  • SCN1A

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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