If you made any changes in Pure, your changes will be visible here soon.

Research Output 1995 2019

  • 2236 Citations
  • 52 Article
  • 11 Comment/debate
  • 5 Review article
  • 1 Chapter
Filter
Article
2019
Open Access
Myoclonic Epilepsy
Phenotype
Seizures
Inbred C57BL Mouse
Induced Hyperthermia
2 Citations (Scopus)

Gene expression profiling in a mouse model of Dravet syndrome

Hawkins, N. A., Calhoun, J. D., Huffman, A. M. & Kearney, J. A., Jan 1 2019, In : Experimental Neurology. 311, p. 247-256 10 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Gene Expression Profiling
Seizures
Gene Expression
Phenotype
1 Citation (Scopus)
Myoclonic Epilepsy
GABA-A Receptors
Seizures
Inhibitory Postsynaptic Potentials
Hypnotics and Sedatives
2018
Developmental Genes
Brain Diseases
Mutation
10 Citations (Scopus)

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of dravet syndrome

Favero, M., Sotuyo, N. P., Lopez, E., Kearney, J. A. & Goldberg, E. M., Sep 5 2018, In : Journal of Neuroscience. 38, 36, p. 7912-7927 16 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Interneurons
Epilepsy
Action Potentials
Voltage-Gated Sodium Channels
7 Citations (Scopus)

Peripherally derived T regulatory and γδ T cells have opposing roles in the pathogenesis of intractable pediatric epilepsy

Xu, D., Robinson, A. P., Ishii, T., Duncan, DA. S., Alden, T. D., Goings, G. E., Ifergan, I., Podojil, J. R., Penaloza-MacMaster, P., Kearney, J. A., Swanson, G. T., Miller, S. D. & Koh, S., Apr 1 2018, In : Journal of Experimental Medicine. 215, 4, p. 1169-1186 18 p.

Research output: Contribution to journalArticle

Regulatory T-Lymphocytes
Interleukin-17
Granulocyte-Macrophage Colony-Stimulating Factor
Pediatrics
T-Lymphocytes
9 Citations (Scopus)

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

Baker, E. M., Thompson, C. H., Hawkins, N. A., Wagnon, J. L., Wengert, E. R., Patel, M. K., George Jr, A. L., Meisler, M. H. & Kearney, J. A., Jun 1 2018, In : Epilepsia. 59, 6, p. 1166-1176 11 p.

Research output: Contribution to journalArticle

Sodium Channels
Brain Diseases
Sodium
Seizures
Phenytoin
2017
9 Citations (Scopus)

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

Calhoun, J. D., Hawkins, N. A., Zachwieja, N. J. & Kearney, J. A., Aug 1 2017, In : Epilepsia. 58, 8, p. e111-e115

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Epilepsy
Phenotype
Seizures
T-Type Calcium Channels
9 Citations (Scopus)
Calcium-Calmodulin-Dependent Protein Kinases
Protein Kinases
Sodium
Epilepsy
Neurons
2 Citations (Scopus)

Precision medicine: NMDA receptor-targeted therapy for GRIN2D encephalopathy

Kearney, J. A., Jan 1 2017, In : Epilepsy Currents. 17, 2, p. 112-114 3 p.

Research output: Contribution to journalArticle

Precision Medicine
Brain Diseases
N-Methyl-D-Aspartate Receptors
Mutation
Epilepsy
13 Citations (Scopus)

SCN3A deficiency associated with increased seizure susceptibility

Lamar, T., Vanoye, C. G., Calhoun, J., Wong, J. C., Dutton, S. B. B., Jorge, B. S., Velinov, M., Escayg, A. & Kearney, J. A., Jun 1 2017, In : Neurobiology of Disease. 102, p. 38-48 11 p.

Research output: Contribution to journalArticle

Seizures
Partial Epilepsy
Mutation
Epilepsy
Flurothyl
Myoclonic Epilepsy
Genetic Models
Anticonvulsants
Epilepsy
Seizures
1 Citation (Scopus)

Sodium channel β subunits in epilepsy: Location, location, location

Kearney, J. A., Jan 1 2017, In : Epilepsy Currents. 17, 1, p. 52-53 2 p.

Research output: Contribution to journalArticle

Sodium Channels
Epilepsy

The big picture: Systems biology approach to antiepileptic drug discovery

Kearney, J. A., Jul 1 2017, In : Epilepsy Currents. 17, 4, p. 232-234 3 p.

Research output: Contribution to journalArticle

Systems Biology
Drug Discovery
Anticonvulsants
1 Citation (Scopus)

The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model

Hawkins, N. A., Lewis, M., Hammond, R. S., Doherty, J. J. & Kearney, J. A., Dec 1 2017, In : Scientific Reports. 7, 1, 15327.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Seizures
Steroids
Benzodiazepines
Induced Hyperthermia
20 Citations (Scopus)

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome

Anderson, L. L., Hawkins, N. A., Thompson, C. H., Kearney, J. A. & George Jr, A. L., Dec 1 2017, In : Scientific reports. 7, 1, 1682.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Sodium Channels
Pyramidal Cells
Sodium Channel Blockers
Sodium
2016
14 Citations (Scopus)

Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a

Calhoun, J. D., Hawkins, N. A., Zachwieja, N. J. & Kearney, J. A., Jun 1 2016, In : Epilepsia. 57, 6, p. e103-e107

Research output: Contribution to journalArticle

Voltage-Gated Sodium Channels
Modifier Genes
Epilepsy
Seizures
Mutation
3 Citations (Scopus)

Cannabidiol mellows out resurgent sodium current

Thompson, C. H. & Kearney, J. A., Jan 1 2016, In : Epilepsy Currents. 16, 6, p. 399-401 3 p.

Research output: Contribution to journalArticle

Cannabidiol
Sodium
22 Citations (Scopus)

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

Hawkins, N. A., Zachwieja, N. J., Miller, A. R., Anderson, L. L. & Kearney, J. A., Oct 1 2016, In : PLoS genetics. 12, 10, e1006398.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Chromosomes, Human, Pair 5
modifiers (genes)
epilepsy
Genetic Association Studies
13 Citations (Scopus)

Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations

Hawkins, N. A. & Kearney, J. A., Jan 1 2016, In : Epilepsy Research. 119, p. 20-23 4 p.

Research output: Contribution to journalArticle

Voltage-Gated Sodium Channels
Epilepsy
Leukemia
Mutation
Liver
2 Citations (Scopus)

Locus heterogeneity in epilepsy of infancy with migrating focal seizures

Kearney, J. A., Jan 1 2016, In : Epilepsy Currents. 16, 1, p. 43-45 3 p.

Research output: Contribution to journalArticle

Epilepsy
Seizures
Brain Diseases
Sodium Channel Blockers
Phenytoin
2015

Watch out, no brakes! impaired inhibition results in hyperexcitable networks

Thompson, C. H. & Kearney, J. A., Jan 1 2015, In : Epilepsy Currents. 15, 6, p. 342-343 2 p.

Research output: Contribution to journalArticle

2014
25 Citations (Scopus)

Antiepileptic activity of preferential inhibitors of persistent sodium current

Anderson, L. L., Thompson, C. H., Hawkins, N. A., Nath, R. D., Petersohn, A. A., Rajamani, S., Bush, W. S., Frankel, W. N., Vanoye, C. G., Kearney, J. A. & George, A. L., Jan 1 2014, In : Epilepsia. 55, 8, p. 1274-1283 10 p.

Research output: Contribution to journalArticle

Anticonvulsants
Sodium
Seizures
Electroshock
Hippocampal Mossy Fibers
60 Citations (Scopus)

De novo KCNB1 mutations in epileptic encephalopathy

Torkamani, A., Bersell, K., Jorge, B. S., Bjork, R. L., Friedman, J. R., Bloss, C. S., Cohen, J., Gupta, S., Naidu, S., Vanoye, C. G., George Jr, A. L. & Kearney, J. A., Oct 1 2014, In : Annals of Neurology. 76, 4, p. 529-540 12 p.

Research output: Contribution to journalArticle

Brain Diseases
Exome
Mutation
Missense Mutation
Voltage-Gated Potassium Channels
5 Citations (Scopus)

Epi4K phase I: Gene discovery in epileptic encephalopathies by exome sequencing

Kearney, J. A., Jan 1 2014, In : Epilepsy Currents. 14, 4, p. 208-210 3 p.

Research output: Contribution to journalArticle

Exome
Genetic Association Studies
Brain Diseases
36 Citations (Scopus)

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

Miller, A. R., Hawkins, N. A., Mccollom, C. E. & Kearney, J. A., Feb 1 2014, In : Genes, Brain and Behavior. 13, 2, p. 163-172 10 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Survival
Voltage-Gated Sodium Channels
Epilepsy
Mutation
39 Citations (Scopus)

Novel SCN3A variants associated with focal epilepsy in children

Vanoye, C. G., Gurnett, C. A., Holland, K. D., George, A. L. & Kearney, J. A., Jan 1 2014, In : Neurobiology of Disease. 62, p. 313-322 10 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Epilepsy
Mutation
Pediatrics
Voltage-Gated Sodium Channels
56 Citations (Scopus)
Myoclonic Epilepsy
Epilepsy
Sodium
Neurons
Pyramidal Cells
2013

Cognitive and social impairment in mouse models mirrors dravet syndrome

Kearney, J. A., Jul 24 2013, In : Epilepsy Currents. 13, 2, p. 97-99 3 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Cognitive Dysfunction
2012
8 Citations (Scopus)

Advances in epilepsy genetics and genomics

Kearney, J. A., Jul 1 2012, In : Epilepsy Currents. 12, 4, p. 143-146 4 p.

Research output: Contribution to journalArticle

Genomics
Epilepsy
Technology
Mutation
Therapeutics
16 Citations (Scopus)
Chromosomes, Human, Pair 11
Genetic Association Studies
Epilepsy
RNA
Voltage-Gated Sodium Channels
2011
43 Citations (Scopus)

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

Hawkins, N. A., Martin, M. S., Frankel, W. N., Kearney, J. A. & Escayg, A., Mar 1 2011, In : Neurobiology of Disease. 41, 3, p. 655-660 6 p.

Research output: Contribution to journalArticle

Ion Channels
Seizures
Mutation
Epilepsy
Myoclonic Epilepsy
35 Citations (Scopus)

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

Jorge, B. S., Campbell, C. M., Miller, A. R., Rutter, E. D., Gurnett, C. A., Vanoye, C. G., George, A. L. & Kearney, J. A., Mar 29 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 13, p. 5443-5448 6 p.

Research output: Contribution to journalArticle

Voltage-Gated Potassium Channels
Epilepsy
Mutation
Phenotype
Sodium Channels
2010
44 Citations (Scopus)

Propranolol blocks cardiac and neuronal voltage-gated sodium channels

Wang, D. W., Mistry, A. M., Kahlig, K. M., Kearney, J. A., Xiang, J. & George, A. L., Dec 1 2010, In : Frontiers in Pharmacology. DEC, Article 144.

Research output: Contribution to journalArticle

Voltage-Gated Sodium Channels
Propranolol
Sodium Channels
Local Anesthetics
Nadolol
2009
19 Citations (Scopus)

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19

Bergren, S. K., Rutter, E. D. & Kearney, J. A., Jun 1 2009, In : Mammalian Genome. 20, 6, p. 359-366 8 p.

Research output: Contribution to journalArticle

Modifier Genes
Chromosomes, Human, Pair 19
Epilepsy
Phenotype
Mutation
2008
102 Citations (Scopus)

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

Holland, K. D., Kearney, J. A., Glauser, T. A., Buck, G., Keddache, M., Blankston, J. R., Glaaser, I. W., Kass, R. S. & Meisler, M. H., Mar 5 2008, In : Neuroscience Letters. 433, 1, p. 65-70 6 p.

Research output: Contribution to journalArticle

Partial Epilepsy
Sodium Channels
Epilepsy
Pediatrics
Mutation
2006
87 Citations (Scopus)
Sodium Channels
Purkinje Cells
Premature Mortality
Tetrodotoxin
Tremor
36 Citations (Scopus)

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

Kearney, J. A., Wiste, A. K., Stephani, U., Trudeau, M. M., Siegel, A., Ramachandrannair, R., Elterman, R. D., Muhle, H., Reinsdorf, J., Shields, W. D., Meisler, M. H. & Escayg, A., Feb 1 2006, In : Pediatric neurology. 34, 2, p. 116-120 5 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Mutation
Voltage-Gated Sodium Channels
Deamination
Nucleic Acid Repetitive Sequences
49 Citations (Scopus)

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2

Kearney, J. A., Yang, Y., Beyer, B., Bergren, S. K., Claes, L., DeJonghe, P. & Frankel, W. N., Mar 1 2006, In : Human molecular genetics. 15, 6, p. 1043-1048 6 p.

Research output: Contribution to journalArticle

Epilepsy
Seizures
Mutation
Sodium Channels
Missense Mutation
2005
44 Citations (Scopus)

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a

Bergren, S. K., Chen, S., Galecki, A. & Kearney, J. A., Sep 1 2005, In : Mammalian Genome. 16, 9, p. 683-690 8 p.

Research output: Contribution to journalArticle

Sodium Channels
Epilepsy
Mutation
Seizures
Phenotype
2004
122 Citations (Scopus)

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction

Spampanato, J., Kearney, J. A., De Haan, G., McEwen, D. P., Escayg, A., Aradi, I., MacDonald, B. T., Levin, S. I., Soltesz, I., Benna, P., Montalenti, E., Isom, L. L., Goldin, A. L. & Meisler, M. H., Nov 3 2004, In : Journal of Neuroscience. 24, 44, p. 10022-10034 13 p.

Research output: Contribution to journalArticle

Sodium Channels
Epilepsy
Mutation
Action Potentials
Seizures
2003
24 Citations (Scopus)

mGluRs: A target for pharmacotherapy in Parkinson disease

Kearney, J. A. F. & Albin, R. L., Nov 15 2003, In : Experimental Neurology. 184, SUPPL. 1, p. 30-36 7 p.

Research output: Contribution to journalArticle

Metabotropic Glutamate Receptors
Parkinson Disease
Drug Therapy
Corpus Striatum
Glutamate Receptors
203 Citations (Scopus)

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

Weiss, L. A., Escayg, A., Kearney, J. A., Trudeau, M., MacDonald, B. T., Mori, M., Reichert, J., Buxbaum, J. D. & Meisler, M. H., Mar 24 2003, In : Molecular Psychiatry. 8, 2, p. 186-194 9 p.

Research output: Contribution to journalArticle

Sodium Channels
Autistic Disorder
Calmodulin
Mutation
Single Nucleotide Polymorphism
2002
77 Citations (Scopus)

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Nav1.6)

Kearney, J. A., Buchner, D. A., De Haan, G., Adamska, M., Levin, S. I., Furay, A. R., Albin, R. L., Jones, J. M., Montal, M., Stevens, M. J., Sprunger, L. K. & Meisler, M. H., Oct 15 2002, In : Human molecular genetics. 11, 22, p. 2765-2775 11 p.

Research output: Contribution to journalArticle

Modifier Genes
Sodium Channels
Alleles
Ranvier's Nodes
Voltage-Gated Sodium Channels
20 Citations (Scopus)

Mutations of voltage-gated sodium channels in movement disorders and epilepsy

Meisler, M. H., Kearney, J. A., Sprunger, L. K., MacDonald, B. T., Buchner, D. A. & Escayg, A., Dec 1 2002, In : Novartis Foundation Symposium. 241, p. 72-86 15 p.

Research output: Contribution to journalArticle

Voltage-Gated Sodium Channels
Movement Disorders
Epilepsy
Mutation
Human Genome Project
2001
166 Citations (Scopus)

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities

Kearney, J. A., Plummer, N. W., Smith, M. R., Kapur, J., Cummins, T. R., Waxman, S. G., Goldin, A. L. & Meisler, M. H., Jan 15 2001, In : Neuroscience. 102, 2, p. 307-317 11 p.

Research output: Contribution to journalArticle

Sodium Channels
Seizures
Hippocampus
Mutation
Transgenic Mice
2000

Models of basal ganglia dysfunction: Predictions and pitfalls

Albin, R. L. & Feeley Kearney, J. A., Jan 1 2000, In : Functional Neurology. 15, 3, p. 135-146 12 p.

Research output: Contribution to journalArticle

Secondary Parkinson Disease
Predictive Value of Tests
Corpus Striatum
Subthalamic Nucleus
1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
1999
12 Citations (Scopus)
Metabotropic Glutamate Receptors
Deoxyglucose
Subthalamic Nucleus
Excitatory Amino Acid Agonists
Basal Ganglia
1998
24 Citations (Scopus)

Calcium channel β4 (CACNB4): Human ortholog of the mouse epilepsy gene lethargic

Escayg, A., Jones, J. M., Kearney, J. A., Hitchcock, P. F. & Meisler, M. H., May 15 1998, In : Genomics. 50, 1, p. 14-22 9 p.

Research output: Contribution to journalArticle

Calcium Channels
Epilepsy
Chromosomes, Human, Pair 2
Genes
Exons
30 Citations (Scopus)

The role of nigrostriatal dopamine in metabotropic glutamate agonist- induced rotation

Feeley Kearney, J. A., Becker, J. B., Frey, K. A. & Albin, R. L., Aug 18 1998, In : Neuroscience. 87, 4, p. 881-891 11 p.

Research output: Contribution to journalArticle

Excitatory Amino Acid Agonists
Metabotropic Glutamate Receptors
Dopamine
Corpus Striatum
Oxidopamine