Login / Signup

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].

R G GamirovaA I BarkovV A ShaimuchametovaN G LiukshinaI V VolkovT R TomenkoO A RakhmaninaO I ShestakovaE A Gorobets
Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2022)
The described cases of X-linked ID in combination with epilepsy show that this disease can be seen in males as well as in females, epilepsy is rather characterized by generalized seizures, and it is pharmacoresistant in many cases. There is a need for further research on this rare genetic syndrome.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • genome wide
  • temporal lobe epilepsy
  • copy number
  • case report
  • gene expression
  • dna methylation