Search Results - "REID, Christopher A"
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1
Spectrum of GABAA receptor variants in epilepsy
Published in Current opinion in neurology (01-04-2019)“…Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of…”
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2
Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death
Published in Proceedings of the National Academy of Sciences - PNAS (21-08-2018)“…Dravet syndrome is a catastrophic, pharmacoresistant epileptic encephalopathy. Disease onset occurs in the first year of life, followed by developmental delay…”
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3
Development of an inducible anti-VEGF rAAV gene therapy strategy for the treatment of wet AMD
Published in Scientific reports (06-08-2018)“…Vascular endothelial growth factor (VEGF) is a key mediator in the development and progression of choroidal neovascularization (CNV) in patients with wet…”
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4
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
Published in Annals of neurology (01-04-2014)“…Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal…”
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5
Improvement of Photoreceptor Targeting via Intravitreal Delivery in Mouse and Human Retina Using Combinatory rAAV2 Capsid Mutant Vectors
Published in Investigative ophthalmology & visual science (01-12-2017)“…Effective intravitreal gene delivery to cells of the central retina (i.e., photoreceptors) would be of substantial benefit for treating patients with retinal…”
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6
GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons
Published in Proceedings of the National Academy of Sciences - PNAS (11-02-2020)“…The binding of GABA (γ-aminobutyric acid) to extrasynaptic GABAA receptors generates tonic inhibition that acts as a powerful modulator of cortical network…”
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7
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing
Published in Neurobiology of disease (15-10-2024)“…Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an important cause of drug-resistant epilepsy. A significant…”
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8
Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse
Published in Neurobiology of disease (01-03-2022)“…Genetic variation in voltage-gated sodium (NaV) channels is a significant contributor to neurodevelopmental disorders. NaV channel alpha subunits are encoded…”
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9
The hyperpolarization‐activated cyclic nucleotide‐gated 4 channel as a potential anti‐seizure drug target
Published in British journal of pharmacology (01-08-2020)“…Background and Purpose Hyperpolarization‐activated cyclic nucleotide‐gated (HCN) channels are encoded by four genes (HCN1–4) with distinct biophysical…”
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10
Male autism spectrum disorder is linked to brain aromatase disruption by prenatal BPA in multimodal investigations and 10HDA ameliorates the related mouse phenotype
Published in Nature communications (07-08-2024)“…Male sex, early life chemical exposure and the brain aromatase enzyme have been implicated in autism spectrum disorder (ASD). In the Barwon Infant Study birth…”
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11
Antidepressant-like activity of a brain penetrant HCN channel inhibitor in mice
Published in Frontiers in pharmacology (10-05-2023)“…Changes in Hyperpolarization-Activated Cyclic Nucleotide-Gated (HCN) channel function have been linked to depressive-like traits, making them potential drug…”
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12
Preface: Special issue: "Ion channels and genetic epilepsy"
Published in Journal of neurochemistry (09-05-2024)“…This preface introduces the Journal of Neurochemistry Special Issue on Advances in Epilepsy Research. Epilepsy is a devastating disease characterized by…”
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13
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome
Published in Brain (London, England : 1878) (01-06-2014)“…Epileptic encephalopathies, including Dravet syndrome, are severe treatment-resistant epilepsies with developmental regression. We examined a mouse model based…”
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14
Synaptic Zn2+ and febrile seizure susceptibility
Published in British journal of pharmacology (01-01-2017)“…Zn2+, the second most prevalent trace element in the body, is essential for supporting a wide range of biological functions. While the majority of Zn2+ in the…”
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15
Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force
Published in Epileptic disorders (01-04-2020)“…ABSTRACT Epigenetics refers broadly to processes that influence medium to long‐term gene expression by changing the readability and accessibility of the…”
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16
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy
Published in Proceedings of the National Academy of Sciences - PNAS (30-10-2007)“…Mutations in the GABAA receptor γ2 subunit are associated with childhood absence epilepsy and febrile seizures. To understand better the molecular basis of…”
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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
Published in Frontiers in neurology (08-09-2020)“…Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart…”
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18
Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain
Published in Frontiers in molecular neuroscience (28-08-2019)“…Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels carry a non-selective cationic conductance, Ih, which is important for modulating neuron…”
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19
Antisense oligonucleotide therapy for KCNT1 encephalopathy
Published in JCI insight (08-12-2022)“…Developmental and epileptic encephalopathies (DEEs) are characterized by pharmaco-resistant seizures with concomitant intellectual disability. Epilepsy of…”
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20
Prostaglandin-based rAAV-mediated glaucoma gene therapy in Brown Norway rats
Published in Communications biology (03-11-2022)“…Prostaglandin analogs are first-line treatments for open angle glaucoma and while effective at lowering intraocular pressure, they are undermined by patient…”
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