参考文献/References:
[1] Weerts M, Lanko K, Guzmán-Vega F J, et al.Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome[J].Genet Med, 2021,23(11):2122-2137.
[2] Hiraide T, Nakashima M, Yamoto K, et al.De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism[J].Hum Genet, 2018,137(1):95-104.
[3] Hiraide T, Hattori A, Ieda D, et al.De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences[J].Epilepsia Open, 2019,4(3):476-481.
[4] Lee J H, Tate C M, You J S, et al.Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex[J].J Biol Chem, 2007,282(18):13419-13428.
[5] Roston A, Evans D, Gill H, et al.SETD1B-associated neurodevelopmental disorder[J].J Med Genet, 2021,58(3):196-204.
[6] Panayiotopoulos C P, Ferrie C D, GiaIlnakodimos S E, et al.Perioral myoclonia with absences[M]//wolf PJ.Epilcptic Seizures and Syndromes.London:Libbey and Co,1994:143-153.