Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Neurol Sci. 2021 May;42(5):2115-2117. doi: 10.1007/s10072-020-04898-1. Epub 2020 Nov 17.
No abstract available

Keywords: 1p13.2 microdeletion syndrome; Developmental and epileptic encephalopathy; NRAS gene; SCN8A gene.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Epilepsy* / diagnosis
  • Epilepsy* / genetics
  • GTP Phosphohydrolases / genetics
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Membrane Proteins / genetics
  • Mutation
  • NAV1.6 Voltage-Gated Sodium Channel / genetics
  • Seizures
  • Sequence Deletion

Substances

  • Membrane Proteins
  • NAV1.6 Voltage-Gated Sodium Channel
  • SCN8A protein, human
  • GTP Phosphohydrolases
  • NRAS protein, human