Login / Signup

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 Cilio
Published 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.
Keyphrases
  • autism spectrum disorder
  • copy number
  • intellectual disability
  • multiple sclerosis
  • attention deficit hyperactivity disorder
  • physical activity
  • gene expression
  • sleep quality
  • dna methylation
  • genome wide