A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice
about
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesProper synaptic vesicle formation and neuronal network activity critically rely on syndapin ILet's go bananas: revisiting the endocytic BAR codeRegulators of synaptic transmission: roles in the pathogenesis and treatment of epilepsyIndependent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic EncephalopathyNew insights into cochlear sound encodingEtiology of a genetically complex seizure disorder in Celf4 mutant miceOverlapping role of dynamin isoforms in synaptic vesicle endocytosis9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingMutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.Modes and regulation of endocytic membrane retrieval in mouse auditory hair cellsPrecision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.Genome annotation for clinical genomic diagnostics: strengths and weaknessesprickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingAssociation between the polymorphisms in intercellular adhesion molecule-1 and the risk of coronary atherosclerosis: a case-controlled study.A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.Candidate genes for idiopathic epilepsy in four dog breeds.1,8-Naphthalimide derivatives: new leads against dynamin I GTPase activity.Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing.Disruption of Endocytosis with the Dynamin Mutant shibirets1 Suppresses Seizures in DrosophilaA roadmap for precision medicine in the epilepsies.Dynamin, a membrane-remodelling GTPase.Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.Dynamin 1- and 3-Mediated Endocytosis Is Essential for the Development of a Large Central Synapse In VivoTissue-specific dynamin-1 deletion at the calyx of Held decreases short-term depression through a mechanism distinct from vesicle resupply.Dynamin triple knockout cells reveal off target effects of commonly used dynamin inhibitorsThe splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation.Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.Canine epilepsy genetics.The role of EHD proteins at the neuronal synapse.Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.DNM1 encephalopathy: A new disease of vesicle fission.Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets.Early lipofuscin accumulation in frontal lobe epilepsy.The DyNaMics of Excitation and Inhibition Govern Epileptic Encephalopathies and Their Comorbidities.Proteomic analysis of the mitochondria from embryonic and postnatal rat brains reveals response to developmental changes in energy demands.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons.
P2860
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P2860
A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice
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2010 nî lūn-bûn
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2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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A missense mutation in a highl ...... causes epilepsy in fitful mice
@ast
A missense mutation in a highl ...... causes epilepsy in fitful mice
@en
A missense mutation in a highl ...... causes epilepsy in fitful mice
@nl
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label
A missense mutation in a highl ...... causes epilepsy in fitful mice
@ast
A missense mutation in a highl ...... causes epilepsy in fitful mice
@en
A missense mutation in a highl ...... causes epilepsy in fitful mice
@nl
prefLabel
A missense mutation in a highl ...... causes epilepsy in fitful mice
@ast
A missense mutation in a highl ...... causes epilepsy in fitful mice
@en
A missense mutation in a highl ...... causes epilepsy in fitful mice
@nl
P2093
P2860
P3181
P1433
P1476
A missense mutation in a highl ...... causes epilepsy in fitful mice
@en
P2093
Christine Lenz
Connie L Mahaffey
Monica C Roberts
Rebecca M Boumil
Verity A Letts
Wayne N Frankel
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1001046
P407
P577
2010-08-01T00:00:00Z