Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Akari TakaiMasamitsu YamaguchiHideki YoshidaTomohiro ChiyonobuPublished in: International journal of molecular sciences (2020)
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.
Keyphrases
- early onset
- genome wide
- genome wide identification
- late onset
- low cost
- copy number
- stem cells
- drosophila melanogaster
- dna methylation
- bioinformatics analysis
- mitochondrial dna
- genome wide analysis
- healthcare
- social media
- high glucose
- gene expression
- transcription factor
- diabetic rats
- physical activity
- health information
- gram negative
- drug induced
- mesenchymal stem cells
- bone marrow
- decision making
- multidrug resistant
- endothelial cells