Results 71 to 80 of about 29,392 (272)

Bidirectional sleep-seizure interactions and orexin in a mouse model of tuberous sclerosis complex-related epilepsy. [PDF]

Epilepsia
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Rensing NR, Han L, Guo D, Foutz TJ, Wong M.   +4 more
europepmc   +2 more sources

Tuberous Sclerosis Complex in Autism

, 2013
Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder. Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We
Shi, Xiao-Dong, Guo, Xin, Tu, Wen-Jun
core   +1 more source

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

, 2013
BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.
Kwiatkowski, David J., Curatolo, Paolo, Berhouma, Moncef, Hebert, Adelaide, Thiele, Elizabeth, Holmes, Greg, Frost, Michael D., Chugani, Harry T., Wataya-Kaneda, Mari, Brody, Alan, Roberds, Steven, Zonneberg, Bernard, Young, Lisa R., Whittemore, Vicky, Wheless, James, Bartels, Ute, Dunn, David, Glass, Jennifer, Franz, David Neal, Teng, Joyce, Hook, Dena, Roth, Jonathan, O'Callaghan, Finbar, Burger, Charles, Cowen, Edward W., Jóźwiak, Sergiusz, Almoosa, Khalid, Koenig, Mary Kay, Kotloff, Robert, Mlynarczyk, Greg, Moss, Joel, Smith, Katie, Mowat, David, Nellist, Mark, Nabbout, Rima, Budde, Klemens, Sampson, Julian, Byars, Anna, Gosnell, Elizabeth, Smith, Karen, Da Silva, Angelo Taveira, Rhu, Jay, Ess, Kevin, Weiner, Howard, Bissler, John, Roach, E. Steve, Johnson, Simon, King, Bryan, Sahin, Mustafa, Povey, Sue, Knilans, Timothy, Northrup, Hope, Witman, Patricia M., Sauter, Matthias, Finlay, Geraldine, Hinton, Robert, Romp, Robb, Crino, Peter, Krueger, Darcy A., Soltani, Keyomaurs, Wang, Henry, Cottin, Vincent, de Vries, Petrus, Singh, Arun D., DebRoy, Ashish, Jansen, Anna, Chen, Pei-Lung, Henske, Elizabeth Petri, Sparagana, Steven, Hulbert, John, Guay-Woodford, Lisa, Lynch, David, Korf, Bruce, Darling, Thomas N., McCormack, Francis X., Kingswood, Chris, Wu, Joyce, Prakash, Ashwin, Bebin, E. Martina   +78 more
core   +1 more source

Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report

Journal of Medical Case Reports, 2012
Introduction The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions.
Ishii Makoto, Asano Koichiro, Kamiishi Nobufumi, Hayashi Yuichiro, Arai Daisuke, Haraguchi Mizuha, Sugiura Hiroaki, Naoki Katsuhiko, Tasaka Sadatomo, Soejima Kenzo, Sayama Koichi, Betsuyaku Tomoko   +11 more
doaj   +1 more source

Tuberous sclerosis complex: a complex case.

Cold Spring Harbor molecular case studies, 2022
Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the TSC1 (hamartin) or more frequently TSC2 (tuberin) genes are causative for TSC.
Powell, Ryan M., Pattison, Sharon, Moravec, Jiri C., Bhat, Basharat, Guirguis, Nada, Markie, David, Jones, Greg T., Copedo, Jason, Print, Cristin G., Morison, Ian M., Gavryushkin, Alex, Gray, Bronwyn, Wyeth, Lisa J., Eccles, Mike R., Macaulay, Erin C.   +14 more
openaire   +2 more sources

Tuberous Sclerosis Complex Renal Disease

, 2010
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement.
Bradley P. Dixon, John J. Bissler, John C. Hulbert   +2 more
core   +1 more source

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source

Pilot validation of the Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) checklist as a screening tool for neuropsychiatric manifestations

, 2014
Includes abstract.
Leclezio, Loren
core  

Epilepsy Risk Prediction Model For Patients With Tuberous Sclerosis Complex

, 2020
BACKGROUND: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important.
Au, Kit Sing, TACERN Study Group, Northrup, Hope, Lupo, Philip J, Richard, Melissa A, Farach, Laura S, Wu, Joyce Y, Sahin, Mustafa, Krueger, Darcy A, Bebin, Elizabeth M   +9 more
core   +1 more source