Results 11 to 20 of about 243,798 (221)

Tuberous sclerosis: A novel approach to diagnosis

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar, R Eeraveni, S Ponnuraj, N Kamarthi   +3 more
doaj   +2 more sources

Tuberous Sclerosis

Vestnik Dermatologii i Venerologii, 2018
Aetiology, pathogenesis, clinical and patomorphological criteria for diagnosis of tuberous sclerosis diagnosis are described in this paper. Clinical case of long undiagnosed tuberous sclerosis is presented.
K. N. Monahov, O. L. Romanova, P. O. Amelina, K. Yu. Molodyh, Yu. S. Astahov, P. A. Nechiporenko, L. K. Atlasova   +6 more
doaj   +2 more sources

Cardiovascular considerations in tuberous sclerosis [PDF]

Pediatria i Medycyna Rodzinna, 2017
Tuberous sclerosis complex is a genetic condition with an autosomal dominant pattern of inheritance, with an incidence of approximately 1:10,000, and 1:6,800 in the paediatric population, caused by a mutation of either of two genes: TSC1 on chromosome ...
Joanna Kohut, Bogusław Mazurek, Jacek Pająk, Lesław Szydłowski, Aleksandra Morka   +4 more
doaj   +2 more sources

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex

GMS Ophthalmology Cases, 2016
Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce, Kunstmann, Erdmute, König, Thomas, Matlach, Juliane, Kampik, Daniel   +4 more
doaj   +2 more sources

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex. [PDF]

Epilepsia
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Guo D, Han L, Rensing NR, Jansen LA, Wong M.   +4 more
europepmc   +2 more sources

Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis. [PDF]

Epilepsia Open
Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Uchitel J, Fariyike O, Steeman S, Rockwood S, Kim LH, Choi J, Hengartner AC, Fel AH, Teeyagura P, Grant G, Buch V, Mahaney KB, Prolo LM, Hyslop Segeren A, Phillips HW.   +14 more
europepmc   +2 more sources

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]

, 2009
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
Povey, S, Ekong, Rosemary, David Kwiatkowski, Ans van den Ouweland, Nellist Mark, Halley Dicky, Povey Sue, Sampson, J. (Julian), Povey, S. (Sue), Kwiatkowski, D. (David), Melika Mozaffari, Sampson, Julian Roy, Halley, D, Sampson Julian, Dunnen, JT, Ekong Rosemary, Ekong, R, Nellist, Mark, Sampson, J, van den Ouweland, Ans, Dunnen, J.T. (Johan) den, Dicky Halley, van den Ouweland Ans, Hoogeveen-Westerveld, M. (Marianne), Halley, Dicky, Halley, D.J.J. (Dicky), den Dunnen, Johan T., Johan T den Dunnen, Rosemary Ekong, Sue Povey, Ekong, R. (Rosemary), Nellist, M.D. (Mark), Hoogeveen-Westerveld, M, Ouweland, A.M.W. (Ans) van den, Hoogeveen - Westerveld, Marianne, Mark Nellist, Nellist, M, Povey, Sue, den Dunnen Johan T, Mozaffari, M, Kwiatkowski, David, Kwiatkowski, D, Mozaffari Melika, Julian Sampson, Mozaffari, E. (Melika), Hoogeveen-Westerveld Marianne, van den Ouweland, A, Marianne Hoogeveen-Westerveld, Mozaffari, Melika, Kwiatkowski David, den Dunnen, JT, Hoogeveen-Westerveld, Marianne   +51 more
core   +2 more sources

Regulation of the mammalian target of rapamycin complex 2 (mTORC2) [PDF]

, 2006
The growth controlling mammalian Target of Rapamycin (mTOR) is a conserved Ser/Thr kinase found in two structurally and functionally distinct complexes, mTORC1 and mTORC2.
Molle, Klaus-Dieter
core   +1 more source

Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

Neural Plasticity, 2012
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1)
Tanjala T. Gipson, Michael V. Johnston
doaj   +1 more source

Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex [PDF]

, 2015
Tuberous sclerosis complex is an autosomal dominant genetic disorder that confers a high risk for neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.
Varcin, Kandice J, Jeste, Shafali Spurling, Shafali Spurling Jeste, Kandice J. Varcin, Joyce Y. Wu, Nelson, Charles A, Charles A. Nelson, Mustafa Sahin, Wu, Joyce Y, Jordan Ko, Ko, Jordan, Sahin, Mustafa   +11 more
core   +1 more source