ArticlePLoS genetics2015
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Beyond Clathrin: Decoding the Mechanism of Ultrafast Endocytosis.Physiology (Bethesda, Md.) · 2025Review
- Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Low-quality protein modulates inflammatory markers and the response to lipopolysaccharide insult: the case of lysine.The British journal of nutrition · 2023Article
- Selective inhibition of gamma aminobutyric acid release from mouse hippocampal interneurone subtypes by the volatile anaesthetic isoflurane.British journal of anaesthesia · 2021Article
- Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.Neurobiology of disease · 2021Review
- RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.Brain : a journal of neurology · 2020Article
- GABABrain communications · 2020Article
- Region-specific differences and areal interactions underlying transitions in epileptiform activity.The Journal of physiology · 2019Article
- Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.Frontiers in pharmacology · 2019Article
- Confirming the pathogenicity ofEpilepsia open · 2018Article
- Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.Epilepsy research · 2017Review
- Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.Neurobiology of disease · 2016Article
- Article
- The DyNaMics of Excitation and Inhibition Govern Epileptic Encephalopathies and Their Comorbidities.Epilepsy currentsArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
The childhood epileptic encephalopathies (EE's) are seizure disorders that broadly impact development including cognitive, sensory and motor progress with severe consequences and comorbidities. Recently, mutations in DNM1 (dynamin 1) have been implicated in two EE syndromes, Lennox-Gastaut Syndrome and Infantile Spasms. Dnm1 encodes dynamin 1, a large multimeric GTPase necessary for activity-dependent membrane recycling in neurons, including synaptic vesicle endocytosis. Dnm1Ftfl or "fitful" mice carry a spontaneous mutation in the mouse ortholog of DNM1 and recapitulate many of the disease features associated with human DNM1 patients, providing a relevant disease model of human EE's. In order to examine the cellular etiology of seizures and behavioral and neurological comorbidities, we engineered a conditional Dnm1Ftfl mouse model of DNM1 EE. Observations of Dnm1Ftfl/flox mice in combination with various neuronal subpopulation specific cre strains demonstrate unique seizure phenotypes and clear separation of major neurobehavioral comorbidities from severe seizures associated with the germline model. This demonstration of pleiotropy suggests that treating seizures per se may not prevent severe comorbidity observed in EE associated with dynamin-1 mutations, and is likely to have implications for other genetic forms of EE.
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