Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum

Eur J Paediatr Neurol. 2016 Jul;20(4):657-60. doi: 10.1016/j.ejpn.2016.03.011. Epub 2016 Apr 14.

Abstract

Background: Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability.

Case description: In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala).

Conclusion: This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy.

Keywords: Epileptic encephalopathy; KCNA2.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging*
  • Brain / physiopathology
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / genetics*
  • Brain Diseases / physiopathology
  • Cerebral Palsy / physiopathology
  • Developmental Disabilities / physiopathology
  • Electroencephalography
  • Epilepsy / diagnostic imaging
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Kv1.2 Potassium Channel / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Phenotype

Substances

  • KCNA2 protein, human
  • Kv1.2 Potassium Channel