Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A

J Neurol Sci. 2016 Oct 15:369:53-56. doi: 10.1016/j.jns.2016.07.038. Epub 2016 Jul 16.

¹ Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital, Guangzhou Medical University, Guangdong, People's Republic of China.
² School of Life Sciences and Technology, Tongji University, Shanghai, People's Republic of China.
³ 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.
⁴ 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: [email protected].
⁵ 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: [email protected].

No abstract available

Keywords: Dravet syndrome; Inheritance; Mosaicism; SCN1A; Whole exome sequencing.

Publication types