Search Results - "Filip‐Dhima, Rajna"

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex by Davis, Peter E., Kapur, Kush, Filip‐Dhima, Rajna, Trowbridge, Sara K., Little, Elaina, Wilson, Andrew, Leuchter, Andrew, Bebin, Elizabeth M., Krueger, Darcy, Northrup, Hope, Wu, Joyce Y., Sahin, Mustafa, Peters, Jurriaan M., Warfield, S, Peters, J, Goyal, M, Dies, K, Bruns, S, Hanson, E, Bing, N, Kent, B, O'Kelley, S, William, M, Pearson, D, Murray, D, Cutter, G, Roberds, S, Scherrer, B

“…Objective To identify whether abnormal electroencephalography (EEG) connectivity is present before the onset of epileptic spasms (ES) in infants with tuberous…”
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Everolimus for treatment of tuberous sclerosis complex‐associated neuropsychiatric disorders by Krueger, Darcy A., Sadhwani, Anjali, Byars, Anna W., Vries, Petrus J., Franz, David N., Whittemore, Vicky H., Filip‐Dhima, Rajna, Murray, Donna, Kapur, Kush, Sahin, Mustafa

“…Objective To evaluate if short‐term treatment with everolimus was safe and could improve neurocognition and behavior in children with TSC. Methods This was a…”
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants by Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa

“…Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be…”
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A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome by Srivastava, Siddharth, Jo, Booil, Zhang, Bo, Frazier, Thomas, Gallagher, Anne Snow, Peck, Fleming, Levin, April R, Mondal, Sangeeta, Li, Zetan, Filip-Dhima, Rajna, Geisel, Gregory, Dies, Kira A, Diplock, Amelia, Eng, Charis, Hanna, Rabi, Sahin, Mustafa, Hardan, Antonio

“…PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelopmental disorder characterized by mTOR (mechanistic target of rapamycin) overactivity. Limited…”
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Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome by Gluckman, Jake, Levy, Tess, Friedman, Kate, Garces, Francesca, Filip-Dhima, Rajna, Quinlan, Aisling, Iannotti, Isabelle, Pekar, Margaret, Hernandez, Alexandra Lopez, Nava, Madison T, Kravets, Elijah, Siegel, Abigail, Bernstein, Jonathan A, Berry-Kravis, Elizabeth, Powell, Craig M, Soorya, Latha Valluripalli, Thurm, Audrey, Srivastava, Siddharth, Buxbaum, Joseph D, Sahin, Mustafa, Kolevzon, Alexander, Gelb, Bruce D

“…Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the SHANK3 gene. While many…”
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Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study by Prohl, Anna K, Scherrer, Benoit, Tomas-Fernandez, Xavier, Filip-Dhima, Rajna, Kapur, Kush, Velasco-Annis, Clemente, Clancy, Sean, Carmody, Erin, Dean, Meghan, Valle, Molly, Prabhu, Sanjay P, Peters, Jurriaan M, Bebin, E Martina, Krueger, Darcy A, Northrup, Hope, Wu, Joyce Y, Sahin, Mustafa, Warfield, Simon K

“…Multi-site MRI studies are often necessary for recruiting sufficiently sized samples when studying rare conditions. However, they require pooling data from…”
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Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder by Prohl, Anna K, Scherrer, Benoit, Tomas-Fernandez, Xavier, Davis, Peter E, Filip-Dhima, Rajna, Prabhu, Sanjay P, Peters, Jurriaan M, Bebin, E Martina, Krueger, Darcy A, Northrup, Hope, Wu, Joyce Y, Sahin, Mustafa, Warfield, Simon K

“…Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused…”
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome by Levy, Tess, Gluckman, Jacob, Siper, Paige M, Halpern, Danielle, Zweifach, Jessica, Filip-Dhima, Rajna, Holder, Jr, J Lloyd, Trelles, M Pilar, Johnson, Kristina, Bernstein, Jonathan A, Berry-Kravis, Elizabeth, Powell, Craig M, Soorya, Latha Valluripalli, Thurm, Audrey, Buxbaum, Joseph D, Sahin, Mustafa, Kolevzon, Alexander, Srivastava, Siddharth

“…Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for…”
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome by Srivastava, Siddharth, Condy, Emma, Carmody, Erin, Filip-Dhima, Rajna, Kapur, Kush, Bernstein, Jonathan A, Berry-Kravis, Elizabeth, Powell, Craig M, Soorya, Latha, Thurm, Audrey, Buxbaum, Joseph D, Sahin, Mustafa, Kolevzon, A Lexander

“…Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder…”
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome by Mariscal, Michael G, Berry-Kravis, Elizabeth, Buxbaum, Joseph D, Ethridge, Lauren E, Filip-Dhima, Rajna, Foss-Feig, Jennifer H, Kolevzon, Alexander, Modi, Meera E, Mosconi, Matthew W, Nelson, Charles A, Powell, Craig M, Siper, Paige M, Soorya, Latha, Thaliath, Andrew, Thurm, Audrey, Zhang, Bo, Sahin, Mustafa, Levin, April R

“…Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual…”
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A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations by Hardan, Antonio Y., Jo, Booil, Frazier, Thomas W., Klaas, Patricia, Busch, Robyn M., Dies, Kira A., Filip-Dhima, Rajna, Snow, Anne V., Eng, Charis, Hanna, Rabi, Zhang, Bo, Sahin, Mustafa

“…This randomized, double-blind controlled trial of everolimus in individuals with germline phosphatase and tensin homolog mutations (PTEN) was designed to…”
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Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome by Breen, Michael S., Fan, Xuanjia, Levy, Tess, Pollak, Rebecca M., Collins, Brett, Osman, Aya, Tocheva, Anna S., Sahin, Mustafa, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A., Kolevzon, Alexander, Buxbaum, Joseph D., Warfield, Simon K., Scherrer, Benoit, Filip-Dhima, Rajna, Dies, Kira, Siper, Paige, Hanson, Ellen, Phillips, Jennifer M.

“…Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants…”
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Influence of seizures on early development in tuberous sclerosis complex by Capal, Jamie K, Bernardino-Cuesta, Beatriz, Horn, Paul S, Murray, Donna, Byars, Anna Weber, Bing, Nicole M, Kent, Bridget, Pearson, Deborah A, Sahin, Mustafa, Krueger, Darcy A

“…Abstract Objective Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been…”
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Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN by Busch, Robyn M., Srivastava, Siddharth, Hogue, Olivia, Frazier, Thomas W., Klaas, Patricia, Hardan, Antonio, Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis

“…Germline mutations in PTEN , the gene that encodes phosphatase and tensin homolog, have been identified in up to 20% of children with autism spectrum disorder…”
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Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex by Levine, Alexis, Davis, Peter, Zhang, Bo, Peters, Jurriaan, Filip-Dhima, Rajna, Warfield, Simon K., Prohl, Anna, Capal, Jamie, Krueger, Darcy, Bebin, E. Martina, Northrup, Hope, Wu, Joyce Y., Sahin, Mustafa

“…Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and…”
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Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures by Srivastava, Siddharth, Yang, Fanghan, Prohl, Anna K., Davis, Peter E., Capal, Jamie K., Filip-Dhima, Rajna, Bebin, E. Martina, Krueger, Darcy A., Northrup, Hope, Wu, Joyce Y., Warfield, Simon K., Sahin, Mustafa, Zhang, Bo

“…Background: Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for…”
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Treatment of Vitamin D Insufficiency in Children and Adolescents with Inflammatory Bowel Disease: A Randomized Clinical Trial Comparing Three Regimens by Pappa, Helen M, Mitchell, Paul D, Jiang, Hongyu, Kassiff, Sivan, Filip-Dhima, Rajna, DiFabio, Diane, Quinn, Nicolle, Lawton, Rachel C, Varvaris, Mark, Van Straaten, Stephanie, Gordon, Catherine M

“…Context: Vitamin D insufficiency [serum 25-hydroxyvitamin D (25OHD) concentration less than 20 ng/ml] is prevalent among children with inflammatory bowel…”
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Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex by Grayson, Leslie E., Peters, Jurriaan M., McPherson, Tarrant, Krueger, Darcy A., Sahin, Mustafa, Wu, Joyce Y., Northrup, Hope A., Porter, Brenda, Cutter, Gary R., O'Kelley, Sarah E., Krefting, Jessica, Stone, Scellig S., Madsen, Joseph R., Fallah, Aria, Blount, Jeffrey P., Weiner, Howard L., Bebin, E. Martina, Warfield, Simon K., Goyal, Monisha, Pearson, Deborah A., Williams, Marian E., Hanson, Ellen, Bing, Nicole, Kent, Bridget, Filip-Dhima, Rajna, Dies, Kira, Bruns, Stephanie, Scherrer, Benoit, Murray, Donna S., Roberds, Steven L., Capal, Jamie

“…To determine if early epilepsy surgery mitigates detrimental effects of refractory epilepsy on development, we investigated surgical and neurodevelopmental…”
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Maintenance of Optimal Vitamin D Status in Children and Adolescents With Inflammatory Bowel Disease: A Randomized Clinical Trial Comparing Two Regimens by Pappa, Helen M, Mitchell, Paul D, Jiang, Hongyu, Kassiff, Sivan, Filip-Dhima, Rajna, DiFabio, Diane, Quinn, Nicolle, Lawton, Rachel C, Bronzwaer, M. E. S, Koenen, Mirjam, Gordon, Catherine M

“…Context: Vitamin D promotes bone health and regulates the immune system, both important actions for pediatric patients with inflammatory bowel disease (IBD)…”
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High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex by Hussain, Shaun A., Schmid, Ernst, Peters, Jurriaan M., Goyal, Monisha, Bebin, E. Martina, Northrup, Hope, Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Pearson, Deborah, Williams, Marian E., Hanson, Ellen, Bing, Nicole, Kent, Bridget, O’Kelley, Sarah, Filip-Dhima, Rajna, Dies, Kira, Bruns, Stephanie, Scherrer, Benoit, Cutter, Gary, Murray, Donna S., Roberds, Steven L.

“…•Higher vigabatrin dosage after resolution of infantile spasms is associated with lower risk of relapse.•The potential benefit of high-dose vigabatrin must be…”
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