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Adult phenotype of KCNQ2 encephalopathy.

Stephanie BoetsKatrine M JohannesenAnne DestreeFilippo MantiGeorgia RamantaniGaëtan LescaLaurent VercueilMary Kay KoenigPasquale StrianoRikke Steensbjerre MøllerEdward CooperSarah Weckhuysen
Published in: Journal of medical genetics (2021)
Seizure frequency declines over the years and most patients are seizure-free in adulthood. Longer seizure-free periods followed by seizure recurrence are common during childhood and adolescence. Most adult patients have severe ID. Motor, language and behavioural problems are an issue of continuous concern.
Keyphrases
  • temporal lobe epilepsy
  • depressive symptoms
  • ejection fraction
  • newly diagnosed
  • mental health
  • autism spectrum disorder
  • prognostic factors
  • early life
  • childhood cancer