Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

Neurology. 2004 Jul 13;63(1):191-2. doi: 10.1212/01.wnl.0000132844.20654.c1.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Epilepsies, Partial / genetics*
  • Female
  • Gene Deletion
  • Heart Septal Defects, Ventricular / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • NAV1.1 Voltage-Gated Sodium Channel
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Sodium Channels / deficiency*
  • Sodium Channels / genetics
  • Sodium Channels / physiology
  • Syndactyly / genetics

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • NAV1.2 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • SCN2A protein, human
  • Sodium Channels