Adult phenotype of KCNQ2 encephalopathy.
Stephanie BoetsKatrine M JohannesenAnne DestreeFilippo MantiGeorgia RamantaniGaëtan LescaLaurent VercueilMary Kay KoenigPasquale StrianoRikke Steensbjerre MøllerEdward CooperSarah WeckhuysenPublished 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.