Literature DB >> 31247399

Two Chinese siblings with two novel KCTD7 mutations have dystonia or seizures and epileptic discharge on electroencephalograms.

Lifang Dai1, Changhong Ding2, Fang Fang3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2019        PMID： 31247399     DOI： 10.1016/j.seizure.2019.06.007

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


× No keyword cloud information.
  2 in total

Review 1.  KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Authors:  Dhanya Lakshmi Narayanan; Puneeth H Somashekar; Purvi Majethia; Anju Shukla
Journal:  Clin Dysmorphol       Date:  2022-01-01       Impact factor: 0.816

2.  Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.

Authors:  Justine H Liang; Jonathan Alevy; Viktor Akhanov; Ryan Seo; Cory A Massey; Danye Jiang; Joy Zhou; Roy V Sillitoe; Jeffrey L Noebels; Melanie A Samuel
Journal:  Dis Model Mech       Date:  2022-09-13       Impact factor: 5.732
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.