Search Results - "Appendino, Juan"

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights by Ng, Andy Cheuk-Him, Chahine, Mohamed, Scantlebury, Morris H., Appendino, Juan P.

“…Pathogenic variants in genes encoding ion channels are causal for various pediatric and adult neurological conditions. In particular, several epilepsy…”
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The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy by Cherian, Christina, Appendino, Juan P., Ashtiani, Setareh, Federico, Paolo, Molnar, Christine P., Kerr, Marina, Khan, Aneal, Au, Ping Yee Billie, Klein, Karl Martin

“…Background and objective Pathogenic variants in KCNT1 have been associated with severe forms of epilepsy, typically sleep-related hypermotor epilepsy or…”
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Hypermotor‐tonic‐spasms seizure sequence related to CDKL5 deficiency disorder: a typical case by Appendino, Juan Pablo

“…Content available: Video…”
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Proposed Pathway for the Utilization of Pediatric Ambulatory EEG by Borlot, Felippe, Kozlik, Silvia, Alfaro, Leanne, Payne, Eric T., Ho, Alice W., Appendino, Juan P., Scantlebury, Morris H., Jacobs, Julia

“…The clinical utility of pediatric ambulatory-EEG (A-EEG) has been studied for decades, but limited information exists regarding which variables influence its…”
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KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature by Yoganathan, Sangeetha, Whitney, Robyn, Thomas, Maya, Danda, Sumita, Chettali, Akbar Mohamed, Prasad, Asuri N., Farhan, Sali M. K., AlSowat, Daad, Abukhaled, Musaad, Aldhalaan, Hesham, Gowda, Vykuntaraju K., Kinhal, Uddhava V., Bylappa, Arun Y., Konanki, Ramesh, Lingappa, Lokesh, Parchuri, Bindu Madhavi, Appendino, Juan P., Scantlebury, Morris H., Cunningham, Jessie, Hadjinicolaou, Aristides, El Achkar, Christelle Moufawad, Kamate, Mahesh, Menon, Ramshekhar N., Jose, Manna, Riordan, Gillian, Kannan, Lakshminarayanan, Jain, Vivek, Manokaran, Ranjith Kumar, Chau, Vann, Donner, Elizabeth J., Costain, Gregory, Minassian, Berge A., Jain, Puneet

“…Objective KCTD7‐related progressive myoclonic epilepsy (PME) is a rare autosomal‐recessive disorder. This study aimed to describe the clinical details and…”
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Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates by Pijpers, Judith A., Au, Ping Yee Billie, Weeke, Lauren C., Vein, Alla A., Smit, Liesbeth S., Vilan, Ana, Jacobs, Elke, de Vries, Linda S., Steggerda, Sylke J., Cilio, Maria Roberta, Carapancea, Evelina, Cornet, Marie-Coralie, Appendino, Juan P., Peeters-Scholte, Cacha M.P.C.D.

“…•Case series of SCN2A and KCNQ3-associated epilepsy.•Unique semiology with tonic seizures with apnea and desaturation.•aEEG and EEG show a characteristic ictal…”
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Removing barriers to accessing medical cannabis for paediatric patients by Huntsman, Richard J, Elliott, Jesse, Lewis, Evan, Moore-Hepburn, Charlotte, Alcorn, Jane, Mansell, Holly, Appendino, Juan P, Bélanger, Richard E, Corley, Scott, Crooks, Bruce, Denny, AnneMarie M, Finkelstein, Yaron, Finley, Allen, Fung, Ryan, Gilpin, Andrea, Litalien, Catherine, Jacobs, Julia, Oberlander, Timothy F, Palm, Ashley, Palm, Jacob, Polewicz, Monika, Quinn, Declan, Rassekh, S Rod, Repetski, Alexander, Rieder, Michael J, Robson-McKay, Amy, Seifert, Blair, Shackelford, Alan, Siden, Hal, Szafron, Michael, ‘t Jong, Geert, Vaillancourt, Régis, Kelly, Lauren E

“…Abstract Medical cannabis (MC) may offer therapeutic benefits for children with complex neurological conditions and chronic diseases. In Canada, parents, and…”
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy by Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.

“…Objective To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in…”
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Focal seizures associated with the chapeau de gendarme sign or ictal pouting of insular origin by Wiwchar, Logan D., Hader, Walter, Pauranik, Anvita, Joseph, Jeffrey T., Appendino, Juan P.

“…We report a teenager with childhood onset focal seizures associated with the chapeau de gendarme sign or ictal pouting of anterior insular lobe origin. The…”
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De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy by Plumereau, Quentin, Ebdalla, Aya, Poulin, Hugo, Appendino, Juan Pablo, Scantlebury, Morris H., Au, Ping Yee Billie, Chahine, Mohamed

“…Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. SCN1A encodes Na V 1.1, a neuronal voltage-gated Na + channel that…”
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Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I by Maghera, Jasmine, Li, Jingru, Lamothe, Shawn M., Braun, Marvin, Appendino, Juan P., Au, P. Y. Billie, Kurata, Harley T.

“…Objective A spectrum of seizure disorders is linked to mutations in Kv7.2 and Kv7.3 channels. Linking functional effects of identified mutations to their…”
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Creation and implementation of an electronic health record note for quality improvement in pediatric epilepsy: Practical considerations and lessons learned by Buchhalter, Jeffrey R., Scantlebury, Morris H., D’Alfonso, Sabrina, Pablo Appendino, Juan, Bello Espinosa, Luis, Brooks, Brian L., Claassen, Curtis, Corbeil, Jane, Czank, David, Dean, Stafford, Ho, Alice W., Jacobs, Julia, Mackay, Maarit, McMahon, Joka, Mineyko, Aleksandra, Rho, Jong M., Roberts, Trina, Rothenmund, Sonia, Ruta, Gary, Sawchuk, Tyson, Simms, Brett A., Smyth, Kim, Still, Tammy, Thornton, Nancy

“…Objective To describe the development of the Pediatric Epilepsy Outcome‐Informatics Project (PEOIP) at Alberta Children's Hospital (ACH), which was created to…”
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Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism by Woodward, Kristine E., Shah, Ravi M., Benseler, Susanne, Wei, Xing‐Chang, Ng, Denise, Grossman, Jennifer, Hahn, Christopher, Thomas, Mary Ann, Wright, Nicola A. M., Appendino, Juan Pablo

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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder by Peikes, Tyler, Hartley, Jessica N, Mhanni, Aizeddin A, Greenberg, Cheryl R, Appendino, Juan Pablo

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The impact of amplitude-integrated electroencephalography on NICU practice by Appendino, Juan Pablo, McNamara, Patrick J, Keyzers, Matthew, Stephens, Derek, Hahn, Cecil D

“…To examine how the introduction of amplitude-integrated electroencephalography (aEEG) to our neonatal intensive care unit (NICU) influenced clinical practice…”
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Response from Authors to the Letter to the Editor by Appendino, Juan Pablo, Baker, Steven, Chapman, Kristine M, Dykstra, Tamara, Hussein, Tabrez, Jones, Michelle-Lee, Mezei, Michelle M, Mirsattari, Seyed M, Ng, Marcus, Nikkel, Joanne, Obradovic, Vaso, Phan, Cecile, Robinson, Lawrence, Scott, Angela, Téllez-Zenteno, José, Van Niekerk, Michelle, Venance, Shannon, Moore, Fraser

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Practice Guidelines for Canadian Neurophysiology Laboratories During the COVID-19 Pandemic by Appendino, Juan Pablo, Baker, Steven K, Chapman, Kristine M, Dykstra, Tamara, Hussein, Tabrez, Jones, Michelle-Lee, Mezei, Michelle M, Mirsattari, Seyed M, Ng, Marcus, Nikkel, Joanne, Obradovic, Vaso, Phan, Cecile, Robinson, Lawrence, Scott, Angela, Tellez-Zenteno, Jose, Van Niekerk, Michelle, Venance, Shannon, Moore, Fraser

“…The COVID-19 pandemic has had a major impact on clinical practice. Safe standards of practice are essential to protect health care workers while still allowing…”
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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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Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum by Chard, Marisa, Appendino, Juan Pablo, Bello-Espinosa, Luis E., Curtis, Colleen, Rho, Jong M., Wei, Xing-Chang, Al-Hertani, Walla

“…Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) that presents with childhood…”
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Telehealth for Children With Epilepsy Is Effective and Reduces Anxiety Independent of Healthcare Setting by Klotz, Kerstin Alexandra, Borlot, Felippe, Scantlebury, Morris H., Payne, Eric T., Appendino, Juan Pablo, Schönberger, Jan, Jacobs, Julia

“…Objectives: The use of telemedicine has grown exponentially as an alternative to providing care to patients with epilepsy during the pandemic. We investigated…”
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