論文

査読有り 最終著者 責任著者 国際誌
2020年9月3日

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster

International Journal of Molecular Sciences
  • Akari Takai
  • ,
  • Masamitsu Yamaguchi
  • ,
  • Hideki Yoshida
  • ,
  • Tomohiro Chiyonobu

21
17
開始ページ
6442
終了ページ
6442
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.3390/ijms21176442
出版者・発行元
MDPI AG

Developmental and epileptic encephalopathies (DEEs) are the spectrum of severe epilepsies characterized by early-onset, refractory seizures occurring in the context of developmental regression or plateauing. Early infantile epileptic encephalopathy (EIEE) is one of the earliest forms of DEE, manifesting as frequent epileptic spasms and characteristic electroencephalogram findings in early infancy. In recent years, next-generation sequencing approaches have identified a number of monogenic determinants underlying DEE. In the case of EIEE, 85 genes have been registered in Online Mendelian Inheritance in Man as causative genes. Model organisms are indispensable tools for understanding the in vivo roles of the newly identified causative genes. In this review, we first present an overview of epilepsy and its genetic etiology, especially focusing on EIEE and then briefly summarize epilepsy research using animal and patient-derived induced pluripotent stem cell (iPSC) models. The Drosophila model, which is characterized by easy gene manipulation, a short generation time, low cost and fewer ethical restrictions when designing experiments, is optimal for understanding the genetics of DEE. We therefore highlight studies with Drosophila models for EIEE and discuss the future development of their practical use.

リンク情報
DOI
https://doi.org/10.3390/ijms21176442
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32899411
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503973
URL
https://www.mdpi.com/1422-0067/21/17/6442/pdf
ID情報
  • DOI : 10.3390/ijms21176442
  • eISSN : 1422-0067
  • PubMed ID : 32899411
  • PubMed Central 記事ID : PMC7503973

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