title: Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A.
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital, Guangzhou Medical University, Guangdong, People's Republic of China.
authors.forename: Zeyu
authors.initials: Z
authors.lastname: Xiong
authors.affiliation: School of Life Sciences and Technology, Tongji University, Shanghai, People's Republic of China.
authors.forename: Li
authors.initials: L
authors.lastname: Yi
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital, Guangzhou Medical University, Guangdong, People's Republic of China.
authors.forename: Dingya
authors.initials: D
authors.lastname: Cao
authors.affiliation: School of Life Sciences and Technology, Tongji University, Shanghai, People's Republic of China.
authors.forename: Wenteng
authors.initials: W
authors.lastname: He
authors.affiliation: Clinical and Translational Research Center of Shanghai First Maternity & Infant Hospital, School of Life Sciences and Technology, Tongji University,1239 Siping Road, Shanghai, 200092, People's Republic of China.
authors.forename: Jiayu
authors.initials: J
authors.lastname: Chen
authors.affiliation: Clinical and Translational Research Center of Shanghai First Maternity & Infant Hospital, School of Life Sciences and Technology, Tongji University,1239 Siping Road, Shanghai, 200092, People's Republic of China. Electronic address: gaoshaorong@tongji.edu.cn.
authors.forename: Shaorong
authors.initials: S
authors.lastname: Gao
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital, Guangzhou Medical University, Guangdong, 510150, People's Republic of China. Electronic address: xiaofangsun@hotmail.com.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000235:genetics*; D005192:Family Health; D006579:Heterozygote; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Dravet syndrome; Inheritance; Mosaicism; SCN1A; Whole exome sequencing