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[Alternating hemiplegia with epilepsy].

N V ChebanenkoV P ZykovI B KomarovaA A VergizovaA A Egozheva
Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2021)
A clinical case of a genetically confirmed diagnosis of alternating hemiplegia associated with epilepsy is presented. The combination of two types of seizures in a child made it difficult to make a diagnosis. The result of video-EEG monitoring made it possible to understand that a child showed both epileptic seizures and non-epileptic seizures simultaneously with different periodicities. The mutation in the ATP1A3 gene was verified with genome-wide sequencing and targeted therapy was prescribed in a timely manner. As a result, both types of seizures stopped after treatment.
Keyphrases
  • gene expression
  • genome wide
  • dna methylation
  • temporal lobe epilepsy
  • mental health
  • copy number
  • working memory
  • single cell
  • functional connectivity