Search Results - "Huh, Linda"

Outcomes of epilepsy surgery in adults and children by Spencer, Susan, MD, Huh, Linda, MD

“…Summary Surgery is widely accepted as an effective therapy for selected individuals with medically refractory epilepsy. Numerous studies in the past 20 years…”
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy by Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas

“…KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome…”
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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency by Arsov, Todor, Mullen, Saul A., Damiano, John A., Lawrence, Kate M., Huh, Linda L., Nolan, Melinda, Young, Helen, Thouin, Anaïs, Dahl, Hans-Henrik M., Berkovic, Samuel F., Crompton, Douglas E., Sadleir, Lynette G., Scheffer, Ingrid E.

“…Summary Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We…”
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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J

“…Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the…”
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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.

“…Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their…”
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Expanding the genotype-phenotype spectrum in SCN8A-related disorders by Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A, Goodchild, Samuel J, Mezeyova, Janette, Shuart, Noah Gregory, Johnson, Jr, J P, Lee, James, Michoulas, Aspasia, Huh, Linda L, Armstrong, Linlea, Connolly, Mary B, Demos, Michelle K

“…SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as…”
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Brivaracetam, but not ethosuximide, reverses memory impairments in an Alzheimer's disease mouse model by Nygaard, Haakon B, Kaufman, Adam C, Sekine-Konno, Tomoko, Huh, Linda L, Going, Hilary, Feldman, Samantha J, Kostylev, Mikhail A, Strittmatter, Stephen M

“…Recent studies have shown that several strains of transgenic Alzheimer's disease (AD) mice overexpressing the amyloid precursor protein (APP) have cortical…”
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Dosage Related Efficacy and Tolerability of Cannabidiol in Children With Treatment-Resistant Epileptic Encephalopathy: Preliminary Results of the CARE-E Study by Huntsman, Richard J, Tang-Wai, Richard, Alcorn, Jane, Vuong, Stephanie, Acton, Bryan, Corley, Scott, Laprairie, Robert, Lyon, Andrew W, Meier, Simona, Mousseau, Darrell D, Newmeyer, Doris, Prosser-Loose, Erin, Seifert, Blair, Tellez-Zenteno, Jose, Huh, Linda, Leung, Edward, Major, Philippe

“…There is uncertainty regarding the appropriate dose of Cannabidiol (CBD) for childhood epilepsy. We present the preliminary data of seven participants from the…”
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Defining the phenotype of FHF1 developmental and epileptic encephalopathy by Trivisano, Marina, Ferretti, Alessandro, Bebin, Elizabeth, Huh, Linda, Lesca, Gaetan, Siekierska, Aleksandra, Takeguchi, Ryo, Carneiro, Maryline, De Palma, Luca, Guella, Ilaria, Haginoya, Kazuhiro, Shi, Ruo Ming, Kikuchi, Atsuo, Kobayashi, Tomoko, Jung, Julien, Lagae, Lieven, Milh, Mathieu, Mathieu, Marie L., Minassian, Berge A., Novelli, Antonio, Pietrafusa, Nicola, Takeshita, Eri, Tartaglia, Marco, Terracciano, Alessandra, Thompson, Michelle L., Cooper, Gregory M., Vigevano, Federico, Villard, Laurent, Villeneuve, Nathalie, Buyse, Gunnar M., Demos, Michelle, Scheffer, Ingrid E., Specchio, Nicola

“…Fibroblast growth‐factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1…”
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The protocol for the Cannabidiol in children with refractory epileptic encephalopathy (CARE-E) study: a phase 1 dosage escalation study by Reithmeier, Darren, Tang-Wai, Richard, Seifert, Blair, Lyon, Andrew W, Alcorn, Jane, Acton, Bryan, Corley, Scott, Prosser-Loose, Erin, Mousseau, Darrell D, Lim, Hyun J, Tellez-Zenteno, Jose, Huh, Linda, Leung, Edward, Carmant, Lionel, Huntsman, Richard J

“…Initial studies suggest pharmaceutical grade cannabidiol (CBD) can reduce the frequency of convulsive seizures and lead to improvements in quality of life in…”
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Neurological Prognostication After Hypoglycemic Coma: Role of Clinical and EEG Findings by Bouyaknouden, Douaae, Peddada, Teja N., Ravishankar, Nidhi, Fatima, Safoora, Fong-Isariyawongse, Joanna, Gilmore, Emily J., Lee, Jong Woo, Struck, Aaron F., Gaspard, Nicolas

“…Background Hypoglycemic coma (HC) is an uncommon but severe clinical condition associated with poor neurological outcome. There is a dearth of robust…”
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Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy by Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S, Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B, Guella, Ilaria, Farrer, Matthew J, Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian

“…We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and…”
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Effect of Training on Visual Identification of High Frequency Oscillations-A Delphi-Style Intervention by Spring, Aaron M, Pittman, Daniel J, Rizwan, Arsalan, Aghakhani, Yahya, Jirsch, Jeffrey, Connolly, Mary, Wiebe, Samuel, Appendino, Juan Pablo, Datta, Anita, Steve, Trevor, Pillay, Neelan, Javidan, Manouchehr, Scantlebury, Morris, Hrazdil, Chantelle, Josephson, Colin Bruce, Boelman, Cyrus, Gross, Donald, Singh, Shaily, Bello-Espinosa, Luis, Huh, Linda, Jetté, Nathalie, Federico, Paolo

“…We examined the effect of a simple Delphi-method feedback on visual identification of high frequency oscillations (HFOs) in the ripple (80-250 Hz) band, and…”
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Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy by Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S, Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B, Guella, Ilaria, Farrer, Matthew J, Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian

“…Following publication of the original article [1], the authors reported errors in Figure 4…”
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A prospective study of loss of consciousness in epilepsy using virtual reality driving simulation and other video games by Yang, Li, Morland, Thomas B, Schmits, Kristen, Rawson, Elizabeth, Narasimhan, Poojitha, Motelow, Joshua E, Purcaro, Michael J, Peng, Kathy, Raouf, Saned, DeSalvo, Matthew N, Oh, Taemin, Wilkerson, Jerome, Bod, Jessica, Srinivasan, Aditya, Kurashvili, Pimen, Anaya, Joseph, Manza, Peter, Danielson, Nathan, Ransom, Christopher B, Huh, Linda, Elrich, Susan, Padin-Rosado, Jose, Naidu, Yamini, Detyniecki, Kamil, Hamid, Hamada, Farooque, Pue, Astur, Robert, Xiao, Bo, Duckrow, Robert B, Blumenfeld, Hal

“…Abstract Patients with epilepsy are at risk of traffic accidents when they have seizures while driving. However, driving is an essential part of normal daily…”
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Child Neurology: Pheochromocytoma Unveiled by Reversible Cerebral Vasoconstriction Syndrome in a Child With Neurofibromatosis Type 1 by Lagacé, Micheline, Graeber, Brendon, Huh, Linda

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Developmental and epileptic encephalopathies after successful treatment of pediatric ALL: A case series and review of literature by Shukla, Vanita, Cheng, Sylvia, Hukin, Juliette, Huh, Linda, Datta, Anita N

“…Successful treatment of acute lymphoblastic leukemia (ALL) requires multiagent chemotherapy regimens and central nervous system prophylaxis, including…”
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Medicinal cannabis in children and adolescents with autism spectrum disorder: A scoping review by Fletcher, Sarah, Pawliuk, Colleen, Ip, Angie, Huh, Linda, Rassekh, S. Rod, Oberlander, Tim F., Siden, Harold

“…Background Autism spectrum disorder (ASD) is a neurodevelopmental condition estimated to affect 1 in 66 children in Canada and 1 in 270 individuals worldwide…”
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Three consecutive epilepsy syndromes in one child by Kim, Min Jung, Huh, Linda, Datta, Anita N.

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Sensitivity of quantitative EEG for seizure identification in the intensive care unit by Haider, Hiba A, Esteller, Rosana, Hahn, Cecil D, Westover, M Brandon, Halford, Jonathan J, Lee, Jong W, Shafi, Mouhsin M, Gaspard, Nicolas, Herman, Susan T, Gerard, Elizabeth E, Hirsch, Lawrence J, Ehrenberg, Joshua A, LaRoche, Suzette M

“…OBJECTIVE:To evaluate the sensitivity of quantitative EEG (QEEG) for electrographic seizure identification in the intensive care unit (ICU). METHODS:Six-hour…”
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