RRC ID 64512
Author Takai A, Yamaguchi M, Yoshida H, Chiyonobu T.
Title Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Journal Int J Mol Sci
Abstract 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.
Volume 21(17)
Published 2020-9-3
DOI 10.3390/ijms21176442
PII ijms21176442
PMID 32899411
PMC PMC7503973
MeSH Animals Drosophila melanogaster / genetics* Drosophila melanogaster / growth & development* Phenotype Spasms, Infantile / etiology Spasms, Infantile / pathology*
IF 4.556