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KCNQ2-DEE: developmental or epileptic encephalopathy?

Anne T BergSonal MahidaAnnapurna H Poduri
Published in: Annals of clinical and translational neurology (2021)
Seizures in KCNQ2-DEE are often well-controlled, but children have severe impairments regardless. With the increased potential for precision therapies targeting the Kv 7.2 channel or the KCNQ2 gene itself, identifying the most relevant and sensitive clinical endpoints will be critical to ensure successful trials of new therapies.
Keyphrases
  • early onset
  • young adults
  • genome wide
  • copy number
  • dna methylation
  • computed tomography
  • magnetic resonance
  • genome wide identification
  • drug induced