Literature DB >> 34025252

Epilepsy With Myoclonic Atonic Seizures: Why Is the Yield of Genetic Testing for a "Presumed Genetic" Epilepsy Low?

Katherine Nickels.   

Abstract

Entities:  

Year:  2020        PMID: 34025252      PMCID: PMC7818199          DOI: 10.1177/1535759720948890

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


× No keyword cloud information.
  1 in total

1.  De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Authors:  Sathiya N Manivannan; Jolien Roovers; Noor Smal; Candace T Myers; Dilsad Turkdogan; Filip Roelens; Oguz Kanca; Hyung-Lok Chung; Tasja Scholz; Katharina Hermann; Tatjana Bierhals; Hande S Caglayan; Hannah Stamberger; Heather Mefford; Peter de Jonghe; Shinya Yamamoto; Sarah Weckhuysen; Hugo J Bellen
Journal:  Brain       Date:  2022-06-03       Impact factor: 15.255

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.