Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Seizure. 2021 Feb:85:151-154. doi: 10.1016/j.seizure.2020.12.017. Epub 2020 Dec 31.
No abstract available

Keywords: ANKRD11; KBG; Seizures; Slowing EEG activity; Syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Facies
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Phenotype
  • Repressor Proteins / genetics*
  • Tooth Abnormalities / genetics*

Substances

  • ANKRD11 protein, human
  • Repressor Proteins

Supplementary concepts

  • KBG syndrome