Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Tristan T SandsFrancesco MiceliGaetan LescaAnita E BeckLynette G SadleirDaniel K ArringtonBitten Schönewolf-GreulichSébastien MouttonAnna LauritanoPiera NappiMaria Virginia SoldovieriIngrid E SchefferHeather C MeffordNicholas StongErin L HeinzenDavid B GoldsteinAna Grijalvo PerezEric H KossoffAmber StoccoJennifer A SullivanVandana ShashiBenedicte GerardChristine FrancannetAnne-Marie BisgaardZeynep TümerMarjolaine WillemsFrançois RivierAntonio VitobelloKavita ThakkarDeepa S RajanA James BarkovichSarah WeckhuysenEdward C CooperMaurizio TaglialatelaM Roberta CilioPublished in: Annals of neurology (2019)
Specific GoF variants in KCNQ3 cause NDD, ASD, and abundant sleep-activated spikes. This new phenotype contrasts both with self-limited neonatal epilepsy due to KCNQ3 partial loss of function, and with the neonatal or infantile onset epileptic encephalopathies due to KCNQ2 GoF. ANN NEUROL 2019;86:181-192.