Results 101 to 110 of about 34,220 (292)

Case report on tuberous sclerosis

, 2019
Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. Tuberous Sclerosis Complex or Bourneville’s disease, first described by Desiree Magloire Bourneville in 1880 has a prevalence of 1 in 6000 live birth.. It is a
Amit Kumar, Mohit Bajaj, Rattan Sagar, Swati Mahajan   +3 more
core   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 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

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

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

, 2014
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably.
Friedrich, Reinhard E., Hagel, Christian, Friedrich, RE, Hagel, C   +3 more
core   +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

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

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference [PDF]

, 2016
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex
Darling, Thomas N, Pende, Mario, Thiele, Elizabeth, Ess, Kevin C, Bissler, John J, Nelson, Charles A, Chugani, Diane C, Wu, Joyce Y, Kwiatkowski, David J, Wagner, Andrew J, D'Arcangelo, Gabriella, Murphy, Leon O, Blenis, John, Moss, Joel, Franz, David, Nellist, Mark, St. Hillaire-Clarke, Coryse, de Vries, Petrus J, Klitgaard, Henrik, Klann, Eric, Paul, Elahna, Rosbeck, Kari Luther, Henske, Elizabeth P, Manning, Brendan D, Zervas, Mark, Song, Minkyung H, Weiner, Howard L, Perrimon, Norbert, Sahin, Mustafa, Young, Lisa R, Krueger, Darcy, Northrup, Hope, Crino, Peter B, Wong, Michael, Silva, Alcino J, Cichowski, Karen, Mamounas, Laura A, Long, Cara, Der, Channing, Bebin, E Martina, Gambello, Michael J, Shaw, Reuben J, Rieff, Heather, Roberds, Steven L, Byars, Anna W, Fureman, Brandy E, Macklin, Wendy B, Krymskaya, Vera P, Plan, Tuberous Sclerosis Complex Working Group to Update the Research   +48 more
core   +1 more source

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

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