A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, H.E.; Jean-Marcais, N.; Yang, E.; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; ... ; C4RCD Res Grp (2018)

Article / Letter to editor

• All authors: Olson, H.E.; Jean-Marcais, N.; Yang, E.; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; Bijlsma, E.K.; Krock, B.L.; Backer, E.; Kamsteeg, E.J.; Sinnema, M.; Reijnders, M.R.F.; Bearden, D.; Begtrup, A.; Telegrafi, A.; Lunsing, R.J.; Burglen, L.; Lesca, G.; Cho, M.T.; Smith, L.A.; Sheidley, B.R.; Achkar, C.M. el; Pearl, P.L.; Poduri, A.; Skraban, C.M.; Tarpinian, J.; Nesbitt, A.I.; Putte, D.E.F. van de; Ruivenkamp, C.A.L.; Rump, P.; Chatron, N.; Sabatier, I.; Bellescize, J. de; Guibaud, L.; Sweetser, D.A.; Waxler, J.L.; Wierenga, K.J.; Donadieu, J.; Narayanan, V.; Ramsey, K.M.; Nava, C.; Riviere, J.B.; Vitobello, A.; Mau-Them, F.T.; Philippe, C.; Bruel, A.L.; Duffourd, Y.; Thomas, L.; Lelieveld, S.H.; Schuurs-Hoeijmakers, J.; Brunner, H.G.; Keren, B.; Thevenon, J.; Faivre, L.; Thomas, G.; Thauvin-Robinet, C.; DDD Study; C4RCD Res Grp
• Date: 2018-05-03
• Journal: American Journal of Human Genetics
• Volume: 102
• Issue: 5
• Pages: 995 - 1007
• DOI: doi:10.1016/j.ajhg.2018.03.005
• Link: https://www.sciencedirect.com/science/article/pii/S0002929718300946?via=...