Literature DB >> 27653866

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

Zeyu Xiong1, Li Yi2, Dingya Cao1, Wenteng He2, Jiayu Chen3, Shaorong Gao4, Xiaofang Sun5.   

Abstract

Entities:  

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

Mesh：

Substances：

Year:  2016        PMID： 27653866     DOI： 10.1016/j.jns.2016.07.038

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  4 in total

1.  Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

Authors:  Yanmei Dou; Xiaoxu Yang; Ziyi Li; Sheng Wang; Zheng Zhang; Adam Yongxin Ye; Linlin Yan; Changhong Yang; Qixi Wu; Jiarui Li; Boxun Zhao; August Yue Huang; Liping Wei
Journal:  Hum Mutat       Date:  2017-05-30       Impact factor: 4.878

Review 2.  The NaV1.7 Channel Subtype as an Antinociceptive Target for Spider Toxins in Adult Dorsal Root Ganglia Neurons.

Authors:  Tânia C Gonçalves; Evelyne Benoit; Michel Partiseti; Denis Servent
Journal:  Front Pharmacol       Date:  2018-09-04       Impact factor: 5.810

Review 3.  SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Authors:  Jiangwei Ding; Xinxiao Li; Haiyan Tian; Lei Wang; Baorui Guo; Yangyang Wang; Wenchao Li; Feng Wang; Tao Sun
Journal:  Front Neurol       Date:  2021-12-24       Impact factor: 4.003

4.  Developmentally regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model of Dravet syndrome.

Authors:  Keisuke Kaneko; Christopher B Currin; Kevin M Goff; Eric R Wengert; Ala Somarowthu; Tim P Vogels; Ethan M Goldberg
Journal:  Cell Rep       Date:  2022-03-29       Impact factor: 9.423
  4 in total

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