Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

Karin Dedek, Lucia Fusco, Nicole Teloy, Ortrud K. Steinlein

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the voltage gated K+-channel gene KCNQ2 are known to cause benign familial neonatal convulsions (BFNC), which are characterized by a benign course, spontaneous remission and normal psychomotor development. Most KCNQ2 mutations can be predicted to truncate the protein. Only a few amino acid exchanges have been found, and their localization was restricted to either the pore region or the fourth or sixth transmembrane region (TM). We have now identified the first KCNQ2 mutation located within TM5, affecting a highly conserved serine in amino acid position 247 of the predicted protein. The clinical history of the two affected family members is not compatible with typical BFNC. The poor outcome in the index patient raises the question if at least some KCNQ2 mutations might increase the risk to develop therapy-resistant epilepsy. Additional studies are needed to evaluate the possibility of a causal relationship between KCNQ2 mutations and severe early infantile epilepsy.

Original languageEnglish
Pages (from-to)21-27
Number of pages7
JournalEpilepsy Research
Volume54
Issue number1
DOIs
Publication statusPublished - Apr 1 2003

Keywords

  • BFNC
  • Electrophysiology
  • Encephalopathy
  • Epilepsy
  • KCNQ2
  • Potassium channel

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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