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Research Output

  • 2410 Citations
  • 54 Article
  • 11 Comment/debate
  • 6 Review article
  • 1 Chapter
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Article
2020

CACNA1H variants are not a cause of monogenic epilepsy

Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In : Human mutation. 41, 6, p. 1138-1144 7 p.

Research output: Contribution to journalArticle

Open Access
2019
Open Access
2 Scopus citations

Gene expression profiling in a mouse model of Dravet syndrome

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

Research output: Contribution to journalArticle

5 Scopus citations
3 Scopus citations

Spectrum of KV2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders

Kang, S. K., Vanoye, C. G., Misra, S. N., Echevarria, D. M., Calhoun, J. D., O'Connor, J. B., Fabre, K. L., McKnight, D., Demmer, L., Goldenberg, P., Grote, L. E., Thiffault, I., Saunders, C., Strauss, K. A., Torkamani, A., van der Smagt, J., van Gassen, K., Carson, R. P., Diaz, J., Leon, E. & 12 others, Jacher, J. E., Hannibal, M. C., Litwin, J., Friedman, N. R., Schreiber, A., Lynch, B., Poduri, A., Marsh, E. D., Goldberg, E. M., Millichap, J. J., George, A. L. & Kearney, J. A., Dec 1 2019, In : Annals of neurology. 86, 6, p. 899-912 14 p.

Research output: Contribution to journalArticle

4 Scopus citations
2018

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

23 Scopus citations

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

10 Scopus citations

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, A. L., Meisler, M. H. & Kearney, J. A., Jun 2018, In : Epilepsia. 59, 6, p. 1166-1176 11 p.

Research output: Contribution to journalArticle

17 Scopus citations
2017

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

15 Scopus citations
11 Scopus citations

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

3 Scopus citations

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

17 Scopus citations

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

1 Scopus citations

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

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

4 Scopus citations

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome

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

Research output: Contribution to journalArticle

28 Scopus citations
2016

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

17 Scopus citations

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

3 Scopus citations

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 2016, In : PLoS genetics. 12, 10, e1006398.

Research output: Contribution to journalArticle

27 Scopus citations

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

16 Scopus citations

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

2 Scopus citations
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

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., Aug 2014, In : Epilepsia. 55, 8, p. 1274-1283 10 p.

Research output: Contribution to journalArticle

31 Scopus citations

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, A. L. & Kearney, J. A., Oct 1 2014, In : Annals of neurology. 76, 4, p. 529-540 12 p.

Research output: Contribution to journalArticle

66 Scopus citations

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

6 Scopus citations

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

49 Scopus citations

Novel SCN3A variants associated with focal epilepsy in children

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

Research output: Contribution to journalArticle

41 Scopus citations
67 Scopus citations
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

2012

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

8 Scopus citations
17 Scopus citations
2011

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

47 Scopus citations

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

38 Scopus citations
2010

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

49 Scopus citations
2009

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

22 Scopus citations
2008

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

104 Scopus citations
2006
89 Scopus citations

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

39 Scopus citations

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

51 Scopus citations
2005

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

46 Scopus citations
2004

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

126 Scopus citations
2003

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

24 Scopus citations

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

214 Scopus citations
2002

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

79 Scopus citations

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

21 Scopus citations
2001

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

172 Scopus citations
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

1999
13 Scopus citations