Results 81 to 90 of about 5,402,382 (253)

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

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

BMC Medical Genetics, 2018
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao   +7 more
doaj   +1 more source

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort

Epilepsia, EarlyView.
Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen, Abigail K. Runicles, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D. Barker, Fintan Sheerin, Juul W. Steenbruggen, Tuberous Sclerosis 2000 Study Group, John R. W. Yates, Charlotte Tye, Patrick F. Bolton   +12 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

VATS therapy of chylothorax caused by leiomyomatosis complicated with tuberous sclerosis complex

Journal of Minimal Access Surgery, 2013
Lymphangioleiomyomatosis with tuberous sclerosis complex is a rare disease. One of the most frequent complications of lymphangioleiomyomatosis is pleural effusion (chylothorax) wich can be treated with the use of VATS.
Adrienn Csiszkó, György Herr, Sándor Sz. Kiss, Judit Hallay, Zoltán Gyöngyösi, Zsolt Szentkereszty   +5 more
doaj   +1 more source

From triggers to ictal events: A video case series of reflex seizures

Epileptic Disorders, EarlyView.
Laure Salmon, Nicolas Nguyen, Dang Khoa Nguyen, Olivier Aron   +3 more
wiley   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Genetics of tuberous sclerosis complex: implications for clinical practice

, 2016
Carolina Caban,1,2 Nubaira Khan,1,2 Daphne M Hasbani,3 Peter B Crino1,2 1Department of Neurology, 2Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, 3Department of Neurology, St. Christopher’s Hospital for ...
Hasbani DM, Crino PB, Khan N, Caban C
core  

Non-Neurologic Manifestations of Tuberous Sclerosis Complex

, 2004
Tuberous sclerosis complex is a heterogeneous genetic disorder affecting multiple organ systems at various points throughout the lifespan. Increasingly, neurologically asymptomatic adults are being diagnosed with tuberous sclerosis complex through renal
David Neal Franz
core   +1 more source

Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]

Journal of Cardio-Thoracic Medicine, 2015
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj