Search Results - "Mitchell, Wendy G"

Acute Cerebellar Ataxia, Acute Cerebellitis, and Opsoclonus-Myoclonus Syndrome by Desai, Jay, Mitchell, Wendy G.

“…Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation…”
Get full text

Effect of Increased Immunosuppression on Developmental Outcome of Opsoclonus Myoclonus Syndrome (OMS) by Mitchell, Wendy G., Wooten, Amelia A., O’Neil, Sharon H., Rodriguez, Jenny G., Cruz, Rosa E., Wittern, Rachael

“…Opsoclonus myoclonus syndrome (OMS) produces long-term cognitive, behavioral, and motor deficits. Objective was to see if more aggressive treatment improved…”
Get full text

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects by Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

“…Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The…”
Get full text

Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis by Abe, Justin, Jafarpour, Saba, Vu, My H, O'Brien, Devon, Boyd, Natalie K, Vogel, Benjamin N, Nguyen, Lina, Paulsen, Kelli C, Saucier, Laura E, Ahsan, Nusrat, Mitchell, Wendy G, Santoro, Jonathan D

“…Pediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease…”
Get full text

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy by Souza, Ivana A, Gandini, Maria A, Zhang, Fang-Xiong, Mitchell, Wendy G, Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W

“…Abstract Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and…”
Get full text

Clobazam in the treatment of Lennox‐Gastaut syndrome by Conry, Joan A., Ng, Yu‐Tze, Paolicchi, Juliann M., Kernitsky, Lydia, Mitchell, Wendy G., Ritter, Frank J., Collins, Stephen D., Tracy, Katherine, Kormany, William N., Abdulnabi, Radhi, Riley, Bill, Stolle, Julie

“…Summary Purpose:  This randomized, double‐blind, dose‐ranging study evaluated safety and efficacy of clobazam (CLB) as adjunctive therapy for drop seizures in…”
Get full text

Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions by Desai, Jay, Ramos-Platt, Leigh, Mitchell, Wendy G

“…Pediatric chronic inflammatory demyelinating polyneuropathy (CIDP) is an uncommon acquired disorder of unknown cause, presumed to have an immunological basis…”
Get full text

Possible Mitochondrial Dysfunction and Its Association with Antiretroviral Therapy Use in Children Perinatally Infected with HIV by Crain, Marilyn J., Chernoff, Miriam C., Oleske, James M., Brogly, Susan B., Malee, Kathleen M., Borum, Peggy R., Meyer, William A., Mitchell, Wendy G., Moye, John H., Ford-Chatterton, Heather M., Van Dyke, Russell B., Seage, George R.

“…Background. Mitochondrial dysfunction has been associated with both human immunodeficiency virus (HIV) infection and exposure to antiretroviral therapy…”
Get full text

Catastrophic Presentation of Infant Botulism May Obscure or Delay Diagnosis by Mitchell, Wendy G, Tseng-Ong, Linda

“…Three infants with infant botulism are presented to illustrate how atypical, early, and severe features may obscure or delay diagnosis. Two boys aged 6 weeks…”
Get full text

Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome by Jiang, Xiao, Raju, Praveen K., D'Avanzo, Nazzareno, Lachance, Mathieu, Pepin, Julie, Dubeau, François, Mitchell, Wendy G., Bello‐Espinosa, Luis E., Pierson, Tyler M., Minassian, Berge A., Lacaille, Jean‐Claude, Rossignol, Elsa

“…Objective Developmental epileptic encephalopathies (DEEs) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive…”
Get full text

Sexual Health Education and Quality of Counseling in Pediatric-Onset Multiple Sclerosis by Burk, Kelly, Pagarkar, Dania, Khoshnood, Mellad M., Jafarpour, Saba, Ahsan, Nusrat, Mitchell, Wendy G., Santoro, Jonathan D.

“…Disease-modifying therapies (DMTs) have revolutionized the management of multiple sclerosis (MS). Many DMTs have a risk of teratogenic outcomes, which is…”
Get full text

Comparative Effectiveness of Initial Treatment for Infantile Spasms in a Contemporary US Cohort by Grinspan, Zachary M, Knupp, Kelly G, Patel, Anup D, Yozawitz, Elissa G, Wusthoff, Courtney J, Wirrell, Elaine, Valencia, Ignacio, Singhal, Nilika S, Nordli, Douglas R, Mytinger, John R, Mitchell, Wendy, Keator, Cynthia G, Loddenkemper, Tobias, Hussain, Shaun A, Harini, chellamani, Gaillard, William D, Fernandez, Ivan S, Coryell, Jason, Chu, Catherine J, Berg, Anne T, Shellhaas, Renee A

“…To compare the effectiveness of initial treatment for infantile spasms. The National Infantile Spasms Consortium prospectively followed up children with…”
Get full text

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium by Wirrell, Elaine C., Shellhaas, Renée A., Joshi, Charuta, Keator, Cynthia, Kumar, Shilpi, Mitchell, Wendy G.

“…Summary Objective To prospectively evaluate the etiology of new‐onset infantile spasms and evaluate the yield of genetic and metabolic investigations in those…”
Get full text

Cancer and Autoimmunity: Paraneoplastic Neurological Disorders Associated With Neuroblastic Tumors by Mitchell, Wendy G., Blaes, Franz

“…Cancer and autoimmunity come together in paraneoplastic syndromes (PNS), which reflect the remote, not direct, effects of cancer. In the pediatric population,…”
Get full text

Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder by Santoro, Jonathan D., Jafarpour, Saba, Khoshnood, Mellad M., Boyd, Natalie K., Vogel, Benjamin N., Nguyen, Lina, Saucier, Laura E., Partridge, Rebecca, Tiongson, Emmanuelle, Ramos‐Platt, Leigh, Nagesh, Deepti, Ho, Eugenia, Rosser, Tena, Ahsan, Nusrat, Mitchell, Wendy G., Rafii, Michael S.

“…Three large multi‐center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression…”
Get full text

An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision by Kerr, Lauren M., Ryan, Morgan E., Lim, Ming, Hearn, Sarah, Klein, Andrea, Deiva, Kumaran, Hopkins, Sarah E., Bacchus, Micky K., Sokol, Elizabeth A., Waanders, Angela J., Mitchell, Wendy G., Khakoo, Yasmin, Lotze, Timothy E., Zhang, Bo, Gorman, Mark P.

Get full text

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases by Jafarpour, Saba, Banerjee, Abhik, Boyd, Natalie K., Vogel, Benjamin N., Paulsen, Kelli C., Ahsan, Nusrat, Mitchell, Wendy G., Jeste, Shafali S., Santoro, Jonathan D.

“…Background There is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene variants…”
Get full text

An Adolescent with Increased Plasma Methylmalonic Acid and Total Homocysteine by Fu, Xiaowei, Francisco, Carla, Pattengale, Paul, O'Gorman, Maurice R, Mitchell, Wendy G

“…A simple Google search shows the variety ofnitrous oxide products that are readily available. Since N2O is commonly administered as anesthesia, a common…”
Get full text

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective by Rossor, Thomas, Yeh, E. Ann, Khakoo, Yasmin, Angelini, Paola, Hemingway, Cheryl, Irani, Sarosh R., Schleiermacher, Gudrun, Santosh, Paramala, Lotze, Tim, Dale, Russell C., Deiva, Kumaran, Hero, Barbara, Klein, Andrea, de Alarcon, Pedro, Gorman, Mark P., Mitchell, Wendy G., Lim, Ming

“…Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare disorder of the nervous system that classically presents with a combination of characteristic eye…”
Get full text

Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy by Khanlou, Négar, MD, Mathern, Gary W., MD, Mitchell, Wendy G., MD, Salamon, Noriko, MD, Pope, Whitney B., MD, PhD, Yong, William H., MD, Vinters, Harry V., MD, FCAP, FRCP(C), FFPath(RCPI)

“…Summary We report a case of a 5-year-old boy with intractable epilepsy who underwent therapeutic corticectomy. Histopathologic findings within the resection…”
Get full text