SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features

Epilepsy Behav. 2009 Nov;16(3):555-7. doi: 10.1016/j.yebeh.2009.08.021. Epub 2009 Sep 24.

Abstract

Mutations in the SCN1A gene have been identified in a variety of epilepsy phenotypes, from severe encephalopathies such as Dravet syndrome to milder familial forms such as generalized epilepsy with febrile seizures plus. In a previous study, an SCN1A mutation was also identified in a patient with Lennox-Gastaut syndrome (LGS), and the aim of our study was to investigate the importance of mutations in the SCN1A gene in Norwegian patients with clinical features of LGS. We screened 22 adult patients for SCN1A mutations by direct sequencing of DNA and for micro-rearrangements with multiplex ligation-dependent probe amplification. In one patient a mutation was found, which demonstrates a clinical overlap between LGS and Dravet syndrome. This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anticonvulsants / therapeutic use
  • DNA Mutational Analysis / methods
  • Electroencephalography
  • Epilepsies, Myoclonic / complications
  • Epilepsies, Myoclonic / diagnosis
  • Epilepsies, Myoclonic / drug therapy
  • Epilepsies, Myoclonic / genetics*
  • Epilepsy / complications
  • Epilepsy / diagnosis
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Psychomotor Performance / physiology
  • Sodium Channels / genetics*
  • Young Adult

Substances

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