Electroencephalographic findings in ATRX syndrome: A new case series and review of literature

Eur J Paediatr Neurol. 2022 Sep:40:69-72. doi: 10.1016/j.ejpn.2022.08.002. Epub 2022 Aug 18.

Abstract

Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) is a rare genetic condition caused by mutations in the ATRX gene characterized by distinctive dysmorphic features, alpha thalassemia, mild-to-profound intellectual disability, and epilepsy, reported in nearly 30% of the patients. To date, different types of seizures are reported in patients with ATRX syndrome including either clonic, tonic, myoclonic seizures or myoclonic absences. However, an accurate analysis of electroencephalographic features is lacking in literature. We report on the epileptic and electroencephalographic phenotype of seven unpublished patients with ATRX syndrome, highlighting the presence of a peculiar EEG pattern characterized by diffuse background slowing with superimposed low voltage fast activity. Likewise, we also review the available literature on this topic.

Keywords: ATRX; EEG; Epilepsy; Low voltage fast activity.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Electroencephalography
  • Epilepsy*
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Mental Retardation, X-Linked* / diagnosis
  • Mental Retardation, X-Linked* / genetics
  • Seizures / diagnosis
  • Seizures / etiology
  • X-linked Nuclear Protein / genetics
  • alpha-Thalassemia* / complications
  • alpha-Thalassemia* / diagnosis
  • alpha-Thalassemia* / genetics

Substances

  • ATRX protein, human
  • X-linked Nuclear Protein

Supplementary concepts

  • ATR-X syndrome