Results 21 to 30 of about 1,419 (181)

Evaluation of the Relationship Between Cranial Magnetic Resonance Imaging and Epileptic Features in Tuberous Sclerosis Complex

Cerrahpaşa Medical Journal, 2021
Objective: Tuberous sclerosis complex is an inherited neurocutaneous disease that is characterized by pleomorphic features involving many organ systems, especially the brain.
Hüseyin Kılıç, Ahmet Kürşat Karaman, Deniz Mavi, Elif Yüksel Karatoprak, Bora Korkmazer, Osman Kızılkılıç, Sema Saltık   +6 more
doaj   +1 more source

Clinical case of manifestation of tuberous sclerosis in a child

Zdorovʹe Rebenka, 2021
We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi, I.H. Samoilenko, Yu.S. Tolmachova, O.O. Dziuba, V.A. Bilanenko   +4 more
doaj   +1 more source

Tuberous sclerosis: A novel approach to diagnosis

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar, R Eeraveni, S Ponnuraj, N Kamarthi   +3 more
doaj   +1 more source

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus

Pharmacological Research, 2023
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarino   +6 more
doaj   +1 more source

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report

Journal of Medical Case Reports, 2021
Background Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex ...
Koji Yamamoto, Yohei Maki, Yuichiro Sato, Hiroyuki Tanaka, Tsuyoshi Fukushima, Junko Ushijima, Seishi Furukawa, Hiroshi Sameshima, Hiroaki Kataoka   +8 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source