Additional De Novo Missense Genetic Variants in NALCN Associated With CLIFAHDD Syndrome

Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30.

Abstract

No abstract available

Keywords: CLIFAHDD syndrome; NALCN; de novo; neurodevelopmental disorder; whole-exome sequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Cerebellum / abnormalities
  • Child, Preschool
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / metabolism
  • Contracture / genetics
  • Contracture / metabolism
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / metabolism
  • Male
  • Mutation, Missense*
  • Sodium Channels / genetics*
  • Syndrome
  • Whole Exome Sequencing

Substances

  • NALCN protein, human
  • Sodium Channels