tuberous sclerosis


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Translations

tu·ber·ous scle·ro·sis

[MIM*191100]
n. esclerosis tuberosa, enfermedad familiar marcada por ataques convulsivos, deficiencia mental progresiva y formación de múltiples tumores cerebrales cutáneos.
References in periodicals archive ?
The study was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Neurological Disorders and Stroke, and by the Tuberous Sclerosis Alliance.
His presentation at 3D Cell Culture 2018 will explore Merging CRISPR-editing and single cell sequencing technologies to uncover the biology of human neurodevelopmental diseases in 3D with case studies on the Zika virus and tuberous sclerosis.
The report summarizes the input provided by participants and panelists during the TS Alliance-sponsored Externally-Led Patient-Focused Drug Development meeting on tuberous sclerosis complex and lymphangioleiomyomatosis, held June 21, 2017 in Washington, DC.
Our patient was a 32-year-old male, non-hypertensive, non-diabetic, who fulfilled five major criteria (facial angiofibromas, periungual fibromas, ash leaf spots, cortical dysplasia, subependymal nodules (SEN), renal angiomyolipomas) of tuberous sclerosis complex (TSC) as per diagnostic criteria of the 2012 International Tuberous Sclerosis Complex Consensus Conference (Box 1).
Tuberous sclerosis is a neurocutaneous disorder characterised by the development of multiple benign tumours of the embryonic ectoderm.
This new international partnership between TS Alliance and the TS Alliance of Mexico will enhance community support, clinical care, education and research efforts in both the US and Mexico in finding a cure for tuberous sclerosis complex.
New Phase 3 LGS data presented at the American Academy of Neurology (AAN) Annual Meeting in April 2017 3 podium presentations at AAN Phase 3 Dravet syndrome trial accepted for publication in high status journal with publication expected in Q2 Phase 3 trial in Tuberous Sclerosis Complex ongoing Part A of two-part Phase 3 trial in Infantile Spasms underway
Case Presentation: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks.
Tuberous sclerosis complex results in benign tumours on the brain, eyes, skin, kidneys, heart and lungs, and can also result in epilepsy, autism and learning difficulties.
Caused by a mutation in the TSC1 and TSC2 genes, tuberous sclerosis complex results in the growth of benign tumours on the brain, eyes, skin, kidneys, heart and lungs, and can also result in epilepsy, autism and learning difficulties.