Search Results - "Dixon‐Salazar, Tracy"

Consequences: Bench to home by Kapur, Jaideep, Long, Lucretia, Dixon‐Salazar, Tracy

“…Seizure clusters (also referred to as acute repetitive seizures) consist of several seizures interspersed with brief interictal periods. Seizure clusters can…”
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Issues related to development of new antiseizure treatments by Wilcox, Karen S., Dixon‐Salazar, Tracy, Sills, Graeme J., Ben‐Menachem, Elinor, Steve White, H., Porter, Roger J., Dichter, Marc A., Moshé, Solomon L., Noebels, Jeffrey L., Privitera, Michael D., Rogawski, Michael A.

“…Summary This report represents a summary of the discussions led by the antiseizure treatment working group of the International League Against Epilepsy…”
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Seizure burden in severe early‐life epilepsy: Perspectives from parents by Berg, Anne T., Kaiser, Karen, Dixon‐Salazar, Tracy, Elliot, Andi, McNamara, Nancy, Meskis, Mary Anne, Golbeck, Emily, Tatachar, Priya, Laux, Linda, Raia, Carrie, Stanley, Janice, Luna, April, Rozek, Christian

“…Objectives Seizure burden is typically measured by seizure frequency yet it entails more than seizure counts, especially for people with severe epilepsies and…”
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Exome sequencing can improve diagnosis and alter patient management by Dixon-Salazar, Tracy J, Silhavy, Jennifer L, Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E, Olvera, Jesus, Bafna, Vineet, Zaki, Maha S, Abdel-Salam, Ghada H, Mansour, Lobna A, Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A, Sonmez, F Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G

“…The translation of "next-generation" sequencing directly to the clinic is still being assessed but has the potential for genetic diseases to reduce costs,…”
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MHC class I limits hippocampal synapse density by inhibiting neuronal insulin receptor signaling by Dixon-Salazar, Tracy J, Fourgeaud, Lawrence, Tyler, Carolyn M, Poole, Julianna R, Park, Joseph J, Boulanger, Lisa M

“…Proteins of the major histocompatibility complex class I (MHCI) negatively regulate synapse density in the developing vertebrate brain (Glynn et al., 2011;…”
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Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities by Knowles, Juliet K, Warren, Aaron E L, Mohamed, Ismail S, Stafstrom, Carl E, Koh, Hyun Yong, Samanta, Debopam, Shellhaas, Renée A, Gupta, Gita, Dixon-Salazar, Tracy, Tran, Linh, Bhatia, Sonal, McCabe, Jane M, Patel, Anup D, Grinspan, Zachary M

“…Lennox-Gastaut syndrome (LGS) is a severe, childhood-onset epilepsy that is typically refractory to treatment. We surveyed the current landscape of LGS…”
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Genetic regulation of human brain development: lessons from Mendelian diseases by Dixon-Salazar, Tracy J., Gleeson, Joseph G.

“…One of the fundamental goals in human genetics is to link gene function to phenotype, yet the function of the majority of the genes in the human body is still…”
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Distinguishing the four genetic causes of jouberts syndrome-related disorders by Valente, Enza Maria, Marsh, Sarah E., Castori, Marco, Dixon-Salazar, Tracy, Bertini, Enrico, Al-Gazali, Lihadh, Messer, Jean, Barbot, Clara, Woods, C. Geoffrey, Boltshauser, Eugen, Al-Tawari, Asma A., Salpietro, Carmelo D., Kayserili, Hulya, Sztriha, László, Gribaa, Moez, Koenig, Michel, Dallapiccola, Bruno, Gleeson, Joseph G.

“…Jouberts syndrome–related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the…”
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly by Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G

“…Joseph Gleeson and colleagues report exome sequencing of 20 individuals with hemimegalencephaly (HME), identifying de novo somatic mutations in the PIK3CA ,…”
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Common data elements for epilepsy mobile health systems by Goldenholz, Daniel M., Moss, Robert, Jost, David A., Crone, Nathan E., Krauss, Gregory, Picard, Rosalind, Caborni, Chiara, Cavazos, Jose E., Hixson, John, Loddenkemper, Tobias, Salazar, Tracy Dixon, Lubbers, Laura, Harte‐Hargrove, Lauren C., Whittemore, Vicky, Duun‐Henriksen, Jonas, Dolan, Eric, Kasturia, Nitish, Oberemk, Mark, Cook, Mark J., Lehmkuhle, Mark, Sperling, Michael R., Shafer, Patricia O.

“…Summary Objective Common data elements (CDEs) are currently unavailable for mobile health (mHealth) in epilepsy devices and related applications. As a result,…”
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Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network by Ho, Nhan Thi, Kroner, Barbara, Grinspan, Zachary, Fureman, Brandy, Farrell, Kathleen, Zhang, Jingzhou, Buelow, Janice, Hesdorffer, Dale C., McDonald, Brianne, Weldon, Monica, Bradish, Juliann, Vogel-Farley, Vanessa, Nues, Paige, Dixon-Salazar, Tracy, Bliss, Geraldine, DeWoody, Yssa, Nakagawa, Jo Anne, Kroner, Barbara, Harris, Michael, Arm, Glen, Jackson, Heather, Miller, Ilene, Vozenilek, Gina, Wong, Nora, Davidow, Audrey, Wagner, Kira, Hecker, JayEtta, Egan, Lynn, Grabenstatter, Heidi, Meskis, Mary Anne, Bartenhagen, Mike, Sims, Scotty, Walters, Julie, Schoyer, Lisa, Nye, Kim

“…To describe the prevalence and characteristics of comorbidities in persons with rare epilepsies. Persons with rare epilepsies and caregivers of those affected…”
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Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability by Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.

“…Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid…”
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Return of individual results in epilepsy genomic research: A view from the field by Ottman, Ruth, Freyer, Catharine, Mefford, Heather C., Poduri, Annapurna, Lowenstein, Daniel H., Appelbaum, Paul S., Burke, Wylie, Dixon‐Salazar, Tracy, Dlugos, Dennis, Fisher, Robert S., Helbig, Katherine L., Herraiz, Laurie, Holm, Ingrid, Huntley, Melanie, Koenig, Barbara, Laux, Linda C., Porter, Brenda, Sewards, Shannon, Sheidley, Beth R.

“…Summary Genomic findings are emerging rapidly in 2 large, closely related epilepsy research consortia: the Epilepsy Phenome/Genome Project and Epi4K…”
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A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) by Abdel-Salam, Ghada M.H., Schaffer, Ashleigh E., Zaki, Maha S., Dixon-Salazar, Tracy, Mostafa, Inas S., Afifi, Hanan H., Gleeson, Joseph G.

“…Wolcott–Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS)…”
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Incorporating the regulatory science of patient input for the epilepsy community by Dumanis, Sonya B., Dixon-Salazar, Tracy

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Non-Seizure Related Outcomes With Real-World Use of Cannabidiol (CBD) in Lennox-Gastaut Syndrome and Dravet Syndrome: BECOME, A Caregiver Survey (P1-8.003) by Berg, Anne, Perry, M. Scott, Salazar, Tracy Dixon, Meskis, Mary Anne, Le, Ngoc Minh D., Danese, Sherry R.

“…Abstract only…”
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Seizure-Related Outcomes With Real-World Use of Cannabidiol (CBD) in Lennox-Gastaut Syndrome and Dravet Syndrome: BECOME, A Caregiver Survey (P13-8.006) by Salazar, Tracy Dixon, Berg, Anne, Danese, Sherry R., Perry, M. Scott, Meskis, Mary Anne, Le, Ngoc Minh D.

“…Abstract only…”
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Nonseizure Outcomes With Cannabidiol (CBD) in Pediatric Versus Adult Patients With Lennox-Gastaut Syndrome (LGS) and Dravet Syndrome (DS): Subgroup Analysis of BECOME, a Caregiver Survey (P14-1.008) by Dixon-Salazar, Tracy, Berg, Anne T., Meskis, Mary Anne, Danese, Sherry R., Saurer, Timothy B., Le, Ngoc Minh D., Perry, M. Scott

“…Abstract only…”
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Seizure Outcomes With Cannabidiol (CBD) in Pediatric Versus Adult Patients With Lennox-Gastaut Syndrome (LGS) and Dravet Syndrome (DS): Subgroup Analysis of BECOME, a Caregiver Survey (P14-1.006) by Saurer, Timothy B., Berg, Anne T., Dixon-Salazar, Tracy, Meskis, Mary Anne, Danese, Sherry R., Le, Ngoc Minh D., Perry, M. Scott

“…Abstract only…”
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Nonseizure outcomes with cannabidiol (CBD) in pediatric versus adult patients with Lennox-Gastaut syndrome (LGS) or Dravet syndrome (DS): Subgroup analysis of become, a caregiver survey by Saurer, Timothy B., Dixon-Salazar, Tracy, Berg, Anne T., Meskis, Mary Anne, Danese, Sherry R., Le, Ngoc Minh D., Perry, M. Scott

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