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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 10 of 11

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The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model.
Hawkins NA, Lewis M, Hammond RS, Doherty JJ, Kearney JA
(2017) Sci Rep 7: 15327
MeSH Terms: Animals, Anticonvulsants, Epilepsies, Myoclonic, GABA-A Receptor Agonists, Hydroxycholesterols, Mice, Mice, Mutant Strains, NAV1.1 Voltage-Gated Sodium Channel, Receptors, GABA-A
Added October 2, 2018
1 Communities
0 Members
0 Resources
9 MeSH Terms
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2 Dravet syndrome mice.
Huang X, Zhou C, Tian M, Kang JQ, Shen W, Verdier K, Pimenta A, MacDonald RL
(2017) Epilepsia 58: 1451-1461
MeSH Terms: Action Potentials, Animals, Convulsants, Electric Stimulation, Epilepsies, Myoclonic, Humans, In Vitro Techniques, Inhibitory Postsynaptic Potentials, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Mutation, Neural Pathways, Patch-Clamp Techniques, Pentylenetetrazole, Protein Subunits, Pyramidal Cells, Receptors, GABA-A, Somatosensory Cortex, Thalamus
Added June 21, 2017
1 Communities
0 Members
0 Resources
21 MeSH Terms
Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.
Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA
(2017) Epilepsia 58: e111-e115
MeSH Terms: Animals, Animals, Newborn, Calcium Channels, T-Type, Disease Models, Animal, Electroencephalography, Epilepsies, Myoclonic, Fever, Humans, Mice, Mice, Inbred C57BL, Mutation, RNA, Messenger, Video Recording
Added October 2, 2018
1 Communities
0 Members
0 Resources
MeSH Terms
Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.
Anderson LL, Hawkins NA, Thompson CH, Kearney JA, George AL
(2017) Sci Rep 7: 1682
MeSH Terms: Action Potentials, Animals, Epilepsies, Myoclonic, Ion Channel Gating, Mice, Inbred C57BL, Mice, Knockout, NAV1.1 Voltage-Gated Sodium Channel, NAV1.6 Voltage-Gated Sodium Channel, Neurons, Pyramidal Cells, Pyridines, Seizures, Survival Analysis, Triazoles
Added October 2, 2018
1 Communities
0 Members
0 Resources
14 MeSH Terms
Altered Channel Conductance States and Gating of GABA Receptors by a Pore Mutation Linked to Dravet Syndrome.
Hernandez CC, Kong W, Hu N, Zhang Y, Shen W, Jackson L, Liu X, Jiang Y, Macdonald RL
(2017) eNeuro 4:
MeSH Terms: Animals, Cell Membrane, Cerebral Cortex, Epilepsies, Myoclonic, HEK293 Cells, Humans, Inhibitory Postsynaptic Potentials, Mice, Inbred C57BL, Miniature Postsynaptic Potentials, Models, Molecular, Mutation, Missense, Neurons, Receptors, GABA-A, Recombinant Proteins, Zinc
Added April 6, 2017
0 Communities
1 Members
0 Resources
15 MeSH Terms
Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
Hawkins NA, Zachwieja NJ, Miller AR, Anderson LL, Kearney JA
(2016) PLoS Genet 12: e1006398
MeSH Terms: Animals, Benzodiazepines, Chromosome Mapping, Chromosomes, Clobazam, Disease Models, Animal, Epilepsies, Myoclonic, Epilepsy, Gene Expression Regulation, Genes, Modifier, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Mice, Mice, Knockout, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Receptors, GABA-A, Seizures
Added October 2, 2018
1 Communities
0 Members
0 Resources
20 MeSH Terms
Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.
Mistry AM, Thompson CH, Miller AR, Vanoye CG, George AL, Kearney JA
(2014) Neurobiol Dis 65: 1-11
MeSH Terms: Age Factors, Animals, Animals, Newborn, Cells, Cultured, Disease Models, Animal, Electric Stimulation, Epilepsies, Myoclonic, Female, Glial Fibrillary Acidic Protein, Glutamate Decarboxylase, Heterozygote, Hippocampus, In Vitro Techniques, Male, Membrane Potentials, Mice, Mice, Transgenic, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, Neurons
Added May 27, 2014
1 Communities
1 Members
0 Resources
20 MeSH Terms
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
Miller AR, Hawkins NA, McCollom CE, Kearney JA
(2014) Genes Brain Behav 13: 163-72
MeSH Terms: Animals, Chromosomes, Epilepsies, Myoclonic, Genes, Modifier, Mice, Mice, Inbred C57BL, NAV1.1 Voltage-Gated Sodium Channel, Penetrance, Quantitative Trait Loci
Added May 27, 2014
1 Communities
1 Members
0 Resources
9 MeSH Terms
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
Tian M, Mei D, Freri E, Hernandez CC, Granata T, Shen W, Macdonald RL, Guerrini R
(2013) Neurobiol Dis 50: 135-41
MeSH Terms: Adult, Aged, Amino Acid Sequence, Child, Child, Preschool, Electroencephalography, Epilepsies, Myoclonic, Female, Flow Cytometry, Frameshift Mutation, Genotype, Humans, Immunoblotting, Immunohistochemistry, Male, Microscopy, Confocal, Middle Aged, Molecular Sequence Data, Patch-Clamp Techniques, Pedigree, Phenotype, Receptors, GABA-A
Added January 24, 2015
0 Communities
1 Members
0 Resources
22 MeSH Terms
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL
(2012) Neurobiol Dis 48: 115-23
MeSH Terms: Aminoglycosides, Codon, Nonsense, Codon, Terminator, Epilepsies, Myoclonic, HEK293 Cells, Humans, Nonsense Mediated mRNA Decay, Protein Subunits, Receptors, GABA-A
Added January 24, 2015
0 Communities
1 Members
0 Resources
9 MeSH Terms