Search Results - "Kalume, Franck"

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome by Cheah, Christine S, Yu, Frank H, Westenbroek, Ruth E, Kalume, Franck K, Oakley, John C, Potter, Gregory B, Rubenstein, John L, Catterall, William A

“…Heterozygous loss-of-function mutations in the brain sodium channel Na V1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome…”
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AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice by Castanza, Anthony S, Ramirez, Sanja, Tripathi, Prem P, Daza, Ray A M, Kalume, Franck K, Ramirez, Jan-Marino, Hevner, Robert F

“…Abstract Human AUTS2 mutations are linked to a syndrome of intellectual disability, autistic features, epilepsy, and other neurological and somatic disorders…”
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Elevated susceptibility to exogenous seizure triggers and impaired interneuron excitability in a mouse model of Leigh syndrome epilepsy by Manning, Arena, Han, Victor, Stephens, Alexa, Wang, Rose, Bush, Nicholas, Bard, Michelle, Ramirez, Jan M., Kalume, Franck

“…Mutations in the NADH dehydrogenase (ubiquinone reductase) iron‑sulfur protein 4 (NDUFS4) gene, which encodes for a key structural subunit of the OXFOS complex…”
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Disordered autonomic function during exposure to moderate heat or exercise in a mouse model of Dravet syndrome by Sahai, Nikhil, Bard, Angela M., Devinsky, Orrin, Kalume, Franck

“…To examine autonomic regulation of core body temperature, heart rate (HR), and breathing rate (BR) in response to moderately elevated ambient temperature or…”
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Temperature- and Age-Dependent Seizures in a Mouse Model of Severe Myoclonic Epilepsy in Infancy by Oakley, John C., Kalume, Franck, Yu, Frank H., Scheuer, Todd, Catterall, William A.

“…Heterozygous loss-of-function mutations in the α subunit of the type I voltage-gated sodium channel $Na_V 1.1$ cause severe myoclonic epilepsy in infancy…”
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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy by Catterall, William A, Yu, Frank H, Mantegazza, Massimo, Westenbroek, Ruth E, Robbins, Carol A, Kalume, Franck, Burton, Kimberly A, Spain, William J, McKnight, G Stanley, Scheuer, Todd

“…Voltage-gated sodium channels (Na(V)) are critical for initiation of action potentials. Heterozygous loss-of-function mutations in Na(V)1.1 channels cause…”
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Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome by Bolea, Irene, Gella, Alejandro, Sanz, Elisenda, Prada-Dacasa, Patricia, Menardy, Fabien, Bard, Angela M, Machuca-Márquez, Pablo, Eraso-Pichot, Abel, Mòdol-Caballero, Guillem, Navarro, Xavier, Kalume, Franck, Quintana, Albert

“…Mitochondrial deficits in energy production cause untreatable and fatal pathologies known as mitochondrial disease (MD). Central nervous system affectation is…”
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Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome by Kalume, Franck, Oakley, John C, Westenbroek, Ruth E, Gile, Jennifer, de la Iglesia, Horacio O, Scheuer, Todd, Catterall, William A

“…Abstract Dravet Syndrome (DS) is caused by heterozygous loss-of-function mutations in voltage-gated sodium channel NaV 1.1. Our mouse genetic model of DS…”
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Reduced Sodium Current in Purkinje Neurons from NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy by Kalume, Franck, Yu, Frank H, Westenbroek, Ruth E, Scheuer, Todd, Catterall, William A

“…Loss-of-function mutations of Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI), which is accompanied by severe ataxia that contributes…”
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Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy by Bornstein, Rebecca, James, Katerina, Stokes, Julia, Park, Kyung Yeon, Kayser, Ernst-Bernhard, Snell, John, Bard, Angela, Chen, Yihan, Kalume, Franck, Johnson, Simon C.

“…Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological…”
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability by Wei, Aguan D, Wakenight, Paul, Zwingman, Theresa A, Bard, Angela M, Sahai, Nikhil, Willemsen, Marjolein H, Schelhaas, Helenius J, Stegmann, Alexander P A, Verhoeven, Judith S, de Man, Stella A, Wessels, Marja W, Kleefstra, Tjitske, Shinde, Deepali N, Helbig, Katherine L, Basinger, Alice, Wagner, Victoria F, Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J, Millen, Kathleen J, Dobyns, William B, Ramirez, Jan-Marino, Kalume, Franck K

“…We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing…”
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy by Roy, Achira, Skibo, Jonathan, Kalume, Franck, Ni, Jing, Rankin, Sherri, Lu, Yiling, Dobyns, William B, Mills, Gordon B, Zhao, Jean J, Baker, Suzanne J, Millen, Kathleen J

“…Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide…”
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Sleep-related respiratory disruptions and laterodorsal tegmental nucleus in a mouse model of Parkinson’s disease by Miranda, Nicole C., Oliveira, Luiz M., Moreira, Thiago S., Ramirez, Jan-Marino, Kalume, Franck, Takakura, Ana C.

“…Parkinson’s disease (PD) is a chronic neurodegenerative disorder affecting the motor system, with non-classic symptoms such as sleep disturbances and…”
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Non-synaptic Cell-Autonomous Mechanisms Underlie Neuronal Hyperactivity in a Genetic Model of PIK3CA -Driven Intractable Epilepsy by Roy, Achira, Han, Victor Z, Bard, Angela M, Wehle, Devin T, Smith, Stephen E P, Ramirez, Jan-Marino, Kalume, Franck, Millen, Kathleen J

“…Patients harboring mutations in the PI3K-AKT-MTOR pathway-encoding genes often develop a spectrum of neurodevelopmental disorders including epilepsy. A…”
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Proceedings of the Sleep and Epilepsy Workshop: Section 3 Mortality: Sleep, Night, and SUDEP by Buchanan, Gordon F., Gluckman, Bruce J., Kalume, Franck K., Lhatoo, Samden, Maganti, Rama K., Noebels, Jeffrey L., Simeone, Kristina A., Quigg, Mark S., Pavlova, Milena K.

“…Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with refractory epilepsy. Likely pathophysiological mechanisms include…”
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Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome by Cheah, Christine S, Westenbroek, Ruth E, Roden, William H, Kalume, Franck, Oakley, John C, Jansen, Laura A, Catterall, William A

“…Dravet Syndrome (DS) is an intractable genetic epilepsy caused by loss-of-function mutations in SCN1A, the gene encoding brain sodium channel Nav 1.1. DS is…”
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Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions by Kalume, Franck

“…Highlights • Dravet syndrome is an epilepsy subtype with one of the highest rates of sudden unexpected death. • We reviewed current data on sudden unexpected…”
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NaV1.1 channels and epilepsy by Catterall, William A., Kalume, Franck, Oakley, John C.

“…Voltage‐gated sodium channels initiate action potentials in brain neurons, and sodium channel blockers are used in therapy of epilepsy. Mutations in sodium…”
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Sleep timing and the circadian clock in mammals: Past, present and the road ahead by Sanchez, Raymond E.A., Kalume, Franck, de la Iglesia, Horacio O.

“…Nearly all mammals display robust daily rhythms of physiology and behavior. These approximately 24-h cycles, known as circadian rhythms, are driven by a master…”
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Mouse model of Leigh Syndrome reveals swallow-breathing discoordination rescued by chronic hypoxia by Huff, Alyssa, Amarante, Marlusa, Oliveira, Luiz, Ramirez, Jan Marino, Kalume, Franck

“…Abstract only Leigh Syndrome is a severe neurometabolic disorder and the most common form of mitochondrial disorder in the pediatric population. It has been…”
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