Results 81 to 90 of about 5,403,298 (185)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models

Stem Cell Reports, 2019
Summary: Tuberous sclerosis complex (TSC) is a rare neurodevelopmental disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes, leading to a hyperactivated mammalian target of rapamycin (mTOR) pathway, and gray and white matter ...
Aishwarya G. Nadadhur, Mouhamed Alsaqati, Lisa Gasparotto, Paulien Cornelissen-Steijger, Eline van Hugte, Stephanie Dooves, Adrian J. Harwood, Vivi M. Heine   +7 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

Stem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng, Lu Liu, Qian Ren, Qun Wang, Wei Shan   +4 more
doaj   +1 more source

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 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  

A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma

罕见病研究
Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body. TSC-associated kidney disease is the leading cause of death in adult TSC patients.
WANG Zhan, XIAO Yu, WANG Wenda, ZHANG Yushi   +3 more
doaj   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

, 2019
To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC)
Radzikowska E. J., Deng Y., Knuf M., Payerova J., Vintan M. A., Zonnenberg B., Budde K., Kubota M., Jansen A., Auvin S., Sander V., Liu Z., Riquet A., Fontana E., Jin M., Wysocki M., Wang Y., Elmslie F., Li H., Zilinska Z., d'Augeres G. B., Sauter M., Laso E. L., Carter T., Luan G., Sriudomkajorn S., Planas J. C., Macaya A., Kaneda M., Zou L., Gueden S., Ceulemans B., Kaneko H., Canevini M. P., Yapici Z., Xu K., Chen P. -L., Vieira J. P., Feucht M., Giannakodimos S., Roubertie A., Cottin V., Yan B., Hertzberg C., Agranovich O., Likasitwattanakul S., Mandera M., Karas A., Gambardella A., Endziniene M., Haberlandt E., Fattal-Valevski A., Fladrowski C., Altunbasak S., Sloerdahl A., Serdaroglu A., Castelnau P., Marquard K., Rojas M. L. R. F., Vladimirovna Maksimova Y., Bratsky L., Ferreira J. C., Belousova E., Merkenschlager A., Valeryevich Belyaev O., Popescu L., Aparicio S. R., Jiang Y., Rask O., Salas A. C., Imai K., Solhoff R., Dura P. S., Liu J., Lvova O., Tsai J. -D., Van Bogaert P., Dieguez I. M., Pataraia E., Wiemer-Kruel A., Ville D., Fischereder M., Gatzonis S., Carrilho I. D. C., Yates D., Candela R. C., Cecile Nassogne M., Petri M. E. Y., Tzadok M., Bermejo A. M., Carrera I. M., Talvik I., Dhooghe M., Monteiro J. P. D. S. O., Bernardina B. D., Dom L., Marques R., Segel R., Pedespan J. -M., Qin J., Liao W., Crawford P., Syrigou Papavasiliou A., Tzoufi M., Rodriguez F. J. A., Pison J. L., Pruna D., Uchida Y., Curatolo P., Uvebrant P., DAmato L., Gilboa T., Bjoernvold M., Thampratankul Krisnachai Chomtho L., Blanco Barca M. O., Touraine R., Riney K., Wilmshurst J., Nguyen The Tich S., Uruno K., Luis C. S. M. R., Kurlemann G., Vladislavovna Levitina E., Youroukos S., Jaatun M. S. G., Tohyama J., Pires Mendonca C., Lawson J. A., Kim K., Roelens F., Strautmanis J., Wilken B., Kwan P., Pavlou E., De Waele L., Endo S., Berquin P., Richelme C., Salcedo E. M., O'Callaghan F., Verhelst H., Ann Johnston C., Demonceau N., Zitterbart K., Papathanasopoulos P., Zhang Y., Defresne P., Hartmann H., Rostasy K., Katanyuwong K., Liao J., Ye D., Takahashi Y., Shinohara N., Jiang L., Lee H. -F., Godet B., Gruber-Sedlmayr U., Horie S., Huang C. -C., Leao M. J. S. D. O. F., Trollmann R., Dahlin M., Kingswood J. C., Inoue Y., Nabangchang C., Burloiu C., Cosma I. S. B., Uldall P., Gonzalez M. J. M., de Vries P. J., Shah S., Hahn A., Milh M., Anlar B., Allaire C., Buono S., Leroy P., Benedik M. P., Luengo O. A., Zhou L., Nabbout R., Cances C., Jozwiak S., Chi C. -S., De Saint Martin A., Huang S.   +186 more
core   +1 more source

Pneumothorax as a Presentation of Tuberous Sclerosis-Associated Lymphangioleiomyomatosis

European Journal of Case Reports in Internal Medicine, 2019
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disorder with a recognized phenotypic variability with clinical manifestations developing continuously throughout life. The follow-up of TSC patients is challenging.
Duarte Lages Silva, Pedro Pinto, Miguel Costa, Rosana Maia, Carmelia Rodrigues   +4 more
doaj   +1 more source