Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster

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, manifes...

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Bibliographic Details
Published in:International journal of molecular sciences 2020-09, Vol.21 (17), p.6442
Main Authors: Takai, Akari, Yamaguchi, Masamitsu, Yoshida, Hideki, Chiyonobu, Tomohiro
Format: Article
Language:English
Subjects:
Animals
bang-sensitivity
Biosynthesis
Cell culture
Convulsions & seizures
Cyclin-dependent kinases
developmental and epileptic encephalopathies
Disease
Drosophila
Drosophila melanogaster
Drosophila melanogaster - genetics
Drosophila melanogaster - growth & development
drug screening
early infantile epileptic encephalopathy
EEG
Encephalopathy
Epilepsy
Etiology
Gene manipulation
Genes
genetic screening
Heredity
Insects
Intellectual disabilities
Kinases
Next-generation sequencing
Patients
Phenotype
Pluripotency
Proteins
Review
Seizures
Sequences
Signal transduction
Spasms
Spasms, Infantile - etiology
Spasms, Infantile - pathology
Stem cells
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Summary: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 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 models for EIEE and discuss the future development of their practical use.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms21176442