Search Results - "NOEBELS, J. L"

Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death by Goldman, A M, Glasscock, E, Yoo, J, Chen, T T, Klassen, T L, Noebels, J L

“…Sudden unexplained death is a catastrophic complication of human idiopathic epilepsy, causing up to 18% of patient deaths. A molecular mechanism and an…”
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Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder by Lopez, A Y, Wang, X, Xu, M, Maheshwari, A, Curry, D, Lam, S, Adesina, A M, Noebels, J L, Sun, Q-Q, Cooper, E C

“…ANK3 , encoding the adaptor protein Ankyrin-G (AnkG), has been implicated in bipolar disorder by genome-wide association studies. ANK3 has multiple alternative…”
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Abbreviated report of the NIH/NINDS workshop on sudden unexpected death in epilepsy by HIRSCH, L. J, DONNER, E. J, SO, E. L, JACOBS, M, NASHEF, L, NOEBELS, J. L, BUCHHALTER, J. R

“…Sudden unexpected death in epilepsy (SUDEP) is a devastating complication of epilepsy and is not rare. The NIH and National Institute of Neurological Disorders…”
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Future directions for epilepsy research by JACOBS, M. P, FISCHBACH, G. D, THEODORE, W. H, DAVIS, M. R, DICHTER, M. A, DINGLEDINE, R, LOWENSTEIN, D. H, MORRELL, M. J, NOEBELS, J. L, ROGAWSKI, M. A, SPENCER, S. S

“…The authors propose that epilepsy research embark on a revitalized effort to move from targeting control of symptoms to strategies for prevention and cure. The…”
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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice by Myers, Richard M, Pennacchio, Len A, Bouley, Donna M, Higgins, Kay M, Scott, Matthew P, Noebels, Jeffrey L

“…Loss-of-function mutations in the gene (CSTB) encoding human cystatin B, a widely expressed cysteine protease inhibitor, are responsible for a severe…”
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Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX by POOLOS, N. P, DAS, S, CLARK, G. D, LARDIZABAL, D, NOEBELS, J. L, WYLLIE, E, DOBYNS, W. B

“…Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with…”
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1) by Houseweart, M K, Vilaythong, A, Yin, X-M, Turk, B, Noebels, J L, Myers, R M

“…Apoptosis can be mediated by mechanisms other than the traditional caspase-mediated cleavage cascade. There is growing recognition that alternative proteolytic…”
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MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan by Ward, Christopher S, Arvide, E Melissa, Huang, Teng-Wei, Yoo, Jong, Noebels, Jeffrey L, Neul, Jeffrey L

“…Rett syndrome is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 (MECP2), a transcriptional regulator. In addition to…”
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Expression of apoptosis inhibitor protein Mcl1 linked to neuroprotection in CNS neurons by Mori, M, Burgess, D L, Gefrides, L A, Foreman, P J, Opferman, J T, Korsmeyer, S J, Cavalheiro, E A, Naffah-Mazzacoratti, Md G, Noebels, J L

“…Mcl1 is a Bcl2-related antiapoptotic protein originally isolated from human myeloid leukemia cells. Unlike Bcl2, expression has not been reported in CNS…”
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The biology of epilepsy genes by NOEBELS, Jeffrey L

“…Mutations in over 70 genes now define biological pathways leading to epilepsy, an episodic dysrhythmia of the cerebral cortex marked by abnormal network…”
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Glutamate transporter mRNA expression in proliferative zones of the developing and adult murine CNS by Sutherland, ML, Delaney, TA, Noebels, JL

“…Neuronal migration, differentiation, and synapse formation are developmental processes within the CNS significantly influenced by ionotropic and metabotropic…”
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Overexpression of a Shaker-type Potassium Channel in Mammalian Central Nervous System Dysregulates Native Potassium Channel Gene Expression by Sutherland, M. L., Williams, S. H., Abedi, R., Overbeek, P. A., Pfaffinger, P. J., Noebels, J. L.

“…The nervous system maintains a delicate balance between excitation and inhibition, partly through the complex interplay between voltage-gated sodium and…”
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Targeting Epilepsy Genes by Noebels, Jeffrey L

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Calcium Channel Defects in Models of Inherited Generalized Epilepsy by Burgess, Daniel L., Noebels, Jeffrey L.

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Developmental analysis of hippocampal mossy fiber outgrowth in a mutant mouse with inherited spike-wave seizures by Qiao, X, Noebels, JL

“…Neural firing patterns are an essential determinant of normal axon terminal growth and synaptic connectivity in developing afferent pathways, but the trophic…”
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Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of stargazer, a mutant mouse with ataxia by Qiao, X, Hefti, F, Knusel, B, Noebels, JL

“…In search of the possible involvement of neurotrophic factors in inherited neurological disease, we examined brain-derived neurotrophic factor (BDNF), nerve…”
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Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3 by Shahbazian, Mona D., Young, Juan I., Yuva-Paylor, Lisa A., Spencer, Corinne M., Antalffy, Barbara A., Noebels, Jeffrey L., Armstrong, Dawna L., Paylor, Richard, Zoghbi, Huda Y.

“…Mutations in the methyl-CpG binding protein 2 ( MECP2) gene cause Rett syndrome (RTT), a neurodevelopmental disorder characterized by the loss of language and…”
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Genetic Disruption of Cortical Interneuron Development Causes Region- and GABA Cell Type-Specific Deficits, Epilepsy, and Behavioral Dysfunction by Powell, Elizabeth M, Campbell, Daniel B, Stanwood, Gregg D, Davis, Caleb, Noebels, Jeffrey L, Levitt, Pat

“…The generation of properly functioning circuits during brain development requires precise timing of cell migration and differentiation. Disruptions in the…”
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Mice Lacking Sodium Channel beta 1 Subunits Display Defects in Neuronal Excitability, Sodium Channel Expression, and Nodal Architecture by Chen, C, Westenbroek, R E, Xu, X, Edwards, CA, Sorenson, DR, Chen, Y, McEwen, D P, O'Malley, HA, Bharucha, V, Meadows, L S, Knudsen, G A, Vilaythong, A, Noebels, J L, Saunders, T L

“…Sodium channel beta 1 subunits modulate alpha subunit gating and cell surface expression and participate in cell adhesive interactions in vitro. beta 1(-/-)…”
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Genetic Epilepsy Model Derived From Common Inbred Mouse Strains by Frankel, W. N, Taylor, B. A, Noebels, J. L, Lutz, C. M

“…The recombinant inbred mouse strain, SWXL-4, exhibits tonic-clonic and generalized seizures similar to the commonest epilepsies in humans. In SWXL-4 animals,…”
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