Search Results - "Schust, Leah"

Progress in Understanding and Treating SCN2A-Mediated Disorders by Sanders, Stephan J., Campbell, Arthur J., Cottrell, Jeffrey R., Moller, Rikke S., Wagner, Florence F., Auldridge, Angie L., Bernier, Raphael A., Catterall, William A., Chung, Wendy K., Empfield, James R., George, Alfred L., Hipp, Joerg F., Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J., Otis, Thomas S., Petrou, Steven, Pitt, Geoffrey, Schust, Leah F., Taylor, Cora M., Tjernagel, Jennifer, Spiro, John E., Bender, Kevin J.

“…Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum…”
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Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms by Ma, Zhixiong, Eaton, Muriel, Liu, Yushuang, Zhang, Jingliang, Chen, Xiaoling, Tu, Xinyu, Shi, Yiqiang, Que, Zhefu, Wettschurack, Kyle, Zhang, Zaiyang, Shi, Riyi, Chen, Yueyi, Kimbrough, Adam, Lanman, Nadia A., Schust, Leah, Huang, Zhuo, Yang, Yang

“…Autism spectrum disorder (ASD) affects ~2% of the population in the US, and monogenic forms of ASD often result in the most severe manifestation of the…”
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SCN2A‐Developmental and Epileptic Encephalopathies: Challenges to trial‐readiness for non‐seizure outcomes by Berg, Anne T., Palac, Hannah, Wilkening, Greta, Zelko, Frank, Schust Meyer, Leah

“…Objective SCN2A‐associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental impairments, and often both. We sought to…”
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A patient organization perspective: charting the course to a cure for SCN2A-related disorders by Schust, Leah F., Burke, Jennifer, SanInocencio, Christina, Bryan, Brad A., Ho, Karen S., Egan, Shawn M.

“…The SCN2A gene encodes the Nav1.2 protein, a voltage-gated sodium channel crucial for initiating and transmitting action potentials in neurons. Dysfunction in…”
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Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies by Cohen, Stacey R., Helbig, Ingo, Kaufman, Michael C., Schust Myers, Leah, Conway, Laura, Helbig, Katherine L.

“…Aim To summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental and epileptic encephalopathies…”
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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy by Downs, Jenny, Ludwig, Natasha N., Wojnaroski, Mary, Keeley, Jessica, Schust Myers, Leah, Chapman, Chere A. T., Hecker, JayEtta, Conecker, Gabrielle, Berg, Anne T.

“…Purpose There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures,…”
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Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders by Berg, Anne T, Thompson, Christopher H, Myers, Leah Schust, Anderson, Erica, Evans, Lindsey, Kaiser, Ariela J E, Paltell, Katherine, Nili, Amanda N, DeKeyser, Jean-Marc L, Abramova, Tatiana V, Nesbitt, Gerry, Egan, Shawn M, Vanoye, Carlos G, George, Jr, Alfred L

“…SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel Nav1.2 are rare, with clinically heterogeneous expressions that…”
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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder by Ludwig, Natasha N., Wojnaroski, Mary, Suskauer, Stacy J., Slomine, Beth S., Kaiser, Ariela, Paltell, Katherine, Evans, Lindsey, Tucker, Karis, Chapman, Chere A.T., Conecker, Gabrielle, Hecker, JayEtta, Myers, Leah Schust, Downs, Jenny, Berg, Anne T.

“…•Valid outcome assessments of neurodevelopment are lacking for those with profound impairments.•This pilot study explored measures in individuals with…”
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