Autism and developmental disability caused by KCNQ3 gain-of-function variants
Tristan T Sands, Francesco Miceli, Gaetan Lesca, Anita E Beck, Lynette G Sadleir, Daniel K Arrington, Bitten Schonewolf-Greulich, Sebastien Moutton, Anna Lauritano, Piera Nappi, Maria Virginia Soldovieri, Ingrid E Scheffer, Heather C Mefford, Nicholas Stong, Erin L Heinzen, David B Goldstein, Ana Grijalvo Perez, Eric H Kossoff, Amber Stocco, Jennifer A Sullivan Show all
Annals of Neurology | WILEY | Published : 2019
Awarded by Telethon Foundation
Awarded by Italian Ministry for University and Research
The present work was supported by the Telethon Foundation (GGP15113) and by the Italian Ministry for University and Research (PRIN 2017ALCR7C) to M.T.; the Italian Ministry for University and Research (Project Scientific Independence of Researchers 2014 RBSI1444EM and PRIN 2017YH3SXK) and the University of Naples "Federico II" and Compagnia di San Paolo within the STAR Program "Sostegno Territoriale alle Attivita di Ricerca" (project number 6-CSP-UNINA-120) to F.M.; the Italian Ministry of Health Ricerca Finalizzata Giovani Ricercatori 2016 (project GR-2016-02363337) and the Italian Ministry for University and Research (PRIN 2017ALCR7C) to M.V.S.; National Institute of Neurological Disorders and Stroke (R01 NS49119 and U54 NS108874) to E.C.C.; the Jack Pribaz Foundation (E.C.C. and S.W.), the KCNQ2 Cure Alliance (E.C.C. and S.W.), and the Miles Family Fund (E.C.C.). The present work was also supported by the University Research Fund-University of Antwerp (FFB180053) and Scientific Research Flanders (1861419N) to S.W. and by the NIH National Institute of Neurological Disorders and Stroke (R01 NS069605) to H.C.M. Genome sequencing for Patient 11 was performed by the SNP&SEQ Technology Platform in Uppsala, Sweden, in collaboration with Lars Feuk. This facility is part of the National Genomics Infrastructure Sweden and Science for Life Technologies. The platform is supported by the Swedish Research Council and the Knut and Alice Wallenberg Foundation. Exome sequencing for Patient 4 was ascertained in the Duke Genome Sequencing Clinic, supported by the Duke University Health System, Durham, NC. We thank the patients and their families for participation in this research, and the KCNQ2 Cure Alliance and Jack Pribaz Foundation for collaboration and parent referrals.