Results 91 to 100 of about 347,356 (359)

The genomic landscape of tuberous sclerosis complex

Nature Communications, 2017
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic
Katie R. Martin, Wanding Zhou, M. Bowman, J. Shih, K. Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie M. Koeman, D. Weisenberger, S. Cottingham, S. Deroos, O. Devinsky, M. Winn, A. Cherniack, Hui Shen, H. Northrup, D. Krueger, J. MacKeigan   +17 more
semanticscholar   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy

Neuropsychiatric Disease and Treatment, 2016
Jamie K Capal, David Neal Franz Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 births ...
Capal J, Franz DN
doaj  

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   +1 more source

Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case [PDF]

Iranian Journal of Neurosurgery, 2022
Background and Importance:Tuberous sclerosis, also known as Bourneville's disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in ...
Tamajyoti Ghosh, Binoy Binoy K Singh
doaj  

Sinonasal angioleiomyoma with adipocyte differentiation: clinicopathologic study of 2 cases and review of the literature [PDF]

, 2019
Angioleiomyoma (ALM) is a benign tumor of the skin and soft tissues composed of well differentiated smooth muscle cells arranged around and among many vascular channels.
Corsi, A., D'Aguanno, V., De Vincentiis, L., de Vincentiis, M., Greco, A., Minni, A., Ralli, M., Remotti, D.   +7 more
core   +1 more source

Tuberous sclerosis complex [PDF]

Anais Brasileiros de Dermatologia, 2012
Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner.
Rodrigues, Daniela Araujo, Gomes, Ciro Martins, Costa, Izelda Maria Carvalho   +2 more
openaire   +5 more sources

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

Unusual Large Sporadic Angiomyolipoma Co-existing with Huge Simple Renal Cyst [PDF]

, 2011
Renal Angiomyolipoma (AML) is an unusual benign mesenchymal tumor with no malignant potential. It is composed of adipose tissue, smooth muscle and abnormal thick walled blood vessels. It can occur sporadically or may be associated with tuberous sclerosis.
Chavan, SH, Desai, SR, Jagtap, SV, Khedkar, J, Kshirsagar, AY, Nikumbh, DB   +5 more
core  

Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Epilepsia Open, EarlyView.
Abstract Objective This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). Methods We recruited subjects with genetically confirmed typical RTT and CDD with
Aglaia Vignoli, Giulia Prato, Enrico Alfei, Irene Bagnasco, Alberto Danieli, Massimiliano Celario, Jacopo Favaro, Sara Matricardi, Francesca Felicia Operto, Alessandro Orsini, Davide Paolo Bernasconi, Nicola Pietrafusa, Emilia Ricci, Luca Manfredini, Giulia Balletto, Paolo Bonanni, Maria Paola Canevini, Valentina De Giorgis, Lino Nobili, Stefano Sartori, Miriam Nella Savini, Ilaria Viganò, Nicola Specchio   +22 more
wiley   +1 more source