Results 81 to 90 of about 34,220 (292)

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara   +7 more
wiley   +1 more source

Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review

open access: yesSAGE Open Medical Case Reports
Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging.
Susmin Karki   +7 more
doaj   +1 more source

Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]

open access: yesF1000Research, 2018
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj   +1 more source

Managing Epilepsy in Tuberous Sclerosis Complex

open access: yes, 2004
Epilepsy is very common in tuberous sclerosis complex and occurs in 80 to 90% of affected individuals during their lifetime. Onset usually occurs during childhood, and up to one third of children with tuberous sclerosis complex will develop infantile ...
Elizabeth Anne Thiele
core   +1 more source

Corticocortical evoked potential amplitude is altered by cortical stimulation in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Neurostimulation is an established therapy for drug‐resistant epilepsy, but optimizing stimulation parameters remains a major challenge. Corticocortical evoked potential (CCEP) amplitude may serve as an immediate biomarker of neurostimulation effects, enabling rapid parameter optimization.
Bethany J. Stieve   +4 more
wiley   +1 more source

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis?

open access: yesClinical Case Reports
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal   +5 more
doaj   +1 more source

Tuberous sclerosis in children [PDF]

open access: yes, 2021
The article presents data on the pediatric population with tuberous sclerosis in the Sverdlovsk region.В статье представлены данные детской популяции с туберозным склерозом в Свердловской ...
Южакова, С. В.   +3 more
core  

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann   +16 more
wiley   +1 more source

Tuberous Sclerosis

open access: yes, 1968
Tuberous Sclerosis. Astrocytic hamartoma of the optic disc. Anatomy: Optic disc. Pathology: Astrocytic hamartoma. Disease/Diagnosis: Tuberous sclerosis.
William F. Hoyt, MD
core  

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