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Research Output 1995 2019

  • 2266 Citations
  • 52 Article
  • 11 Comment/debate
  • 5 Review article
  • 1 Chapter
2006
37 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
72 Citations (Scopus)

Sacred disease secrets revealed: The genetics of human epilepsy

Turnbull, J., Lohi, H., Kearney, J. A., Rouleau, G. A., Delgado-Escueta, A. V., Meisler, M. H., Cossette, P. & Minassian, B. A., Sep 1 2005, In : Human molecular genetics. 14, 17, p. 2491-2500 10 p.

Research output: Contribution to journalReview article

Medical Genetics
Epilepsy
Juvenile Myoclonic Epilepsy
Seizures
Genes
349 Citations (Scopus)

Sodium channel mutations in epilepsy and other neurological disorders

Meisler, M. H. & Kearney, J. A., Aug 1 2005, In : Journal of Clinical Investigation. 115, 8, p. 2010-2017 8 p.

Research output: Contribution to journalReview article

Sodium Channels
Nervous System Diseases
Epilepsy
Mutation
Haploinsufficiency
2004
123 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
206 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
113 Citations (Scopus)

Identification of epilepsy genes in human and mouse

Meisler, M. H., Kearney, J., Ottman, R. & Escayg, A., Dec 1 2001, In : Annual Review of Genetics. 35, p. 567-588 22 p.

Research output: Contribution to journalReview article

Epilepsy
Genes
Sodium Channels
Alleles
Mutation
49 Citations (Scopus)

Sodium channels and neurological disease: Insights from Scn8a mutations in the mouse

Meisler, M. H., Kearney, J., Escayg, A., MacDonald, B. T. & Sprunger, L. K., Jan 1 2001, In : Neuroscientist. 7, 2, p. 136-145 10 p.

Research output: Contribution to journalReview article

Sodium Channels
Mutation
Human Genome
Modifier Genes
High-Throughput Screening Assays
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
1997
78 Citations (Scopus)

Metabotropic glutamate agonist-induced rotation: A pharmacological, FOS immunohistochemical, and [14C]-2- deoxyglucose autoradiographic study

Kearney, J. A. F., Frey, K. A. & Albin, R. L., Jun 7 1997, In : Journal of Neuroscience. 17, 11, p. 4415-4425 11 p.

Research output: Contribution to journalArticle

Excitatory Amino Acid Agonists
Deoxyglucose
Metabotropic Glutamate Receptors
Pharmacology
Corpus Striatum
1995
22 Citations (Scopus)
Adenosine A2 Receptors
Metabotropic Glutamate Receptors
Adenosine
Theophylline
Adenosine A2 Receptor Agonists