Results 121 to 130 of about 50,774 (290)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Frontiers in Cell and Developmental Biology
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao   +10 more
doaj   +1 more source

Tuberous Sclerosis: An uncommon cause of hyperprolactinemia

Indian Journal of Endocrinology and Metabolism, 2012
Tuberous Sclerosis is a multi system genetic disorder affecting skin, central nervous system,kidney,heart and lungs. We present a case report of a 26 year old female with tuberous sclerosis who presented with galactorrhea and menstrual irregularities due
Sunil Kumar Kota, Lalit Kumar Meher, SVS Krishna, K D Modi   +3 more
doaj   +1 more source

Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery

Epilepsia Open, EarlyView.
Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields, Hunain Abri, Cemal Karakas, Shannon D. Davis, Ian S. Mutchnick   +4 more
wiley   +1 more source

Management of Renal Angiomyolipomas in Tuberous Sclerosis: A Case Series

Vascular Specialist International
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis.
Ganesh G Gowda, Maureen Prativa Tigga, Rashmi Hosahalli Sreenath   +2 more
doaj   +1 more source

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source

Meta-analysis of stomatitis in clinical studies of everolimus: incidence and relationship with efficacy. [PDF]

, 2016
BackgroundEverolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, is used to treat solid tumors and tuberous sclerosis complex (TSC). Stomatitis, an inflammation of the mucous membranes of the mouth, is a common adverse event associated with ...
Anak, O, Franz, D, Gallo, J, Hortobagyi, GN, Motzer, R, Pavel, M, Ravaud, A, Ringeisen, F, Rouyrre, N, Rugo, HS, Yao, J   +10 more
core  

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

Epilepsia Open, EarlyView.
Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley   +1 more source

Saccular abdominal aortic aneurysm in adolescence with tuberous sclerosis

Clinical Case Reports
Key clinical message Abdominal aortic aneurysm complicated by tuberous sclerosis is rare, particularly in patients over the age of 10. It is important to screen for abdominal aortic aneurysm in adolescents diagnosed with tuberous sclerosis regularly ...
Takumi Umibe, Hironobu Nishiori, Shintaro Koizumi, Hiroki Ikeuchi, Goro Matsumiya   +4 more
doaj   +1 more source

Cardiovascular considerations in tuberous sclerosis

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   +1 more source