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)

J Child Neurol. 2010 Nov;25(11):1369-76. doi: 10.1177/0883073810365737. Epub 2010 Aug 20.

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.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Epilepsy, Generalized / genetics*
  • Female
  • Genetic Association Studies
  • Genotype
  • Humans
  • Italy
  • Male
  • Mutation
  • Myoclonic Epilepsy, Juvenile / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics*
  • Young Adult

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels