Results 51 to 60 of about 243,798 (221)

A child with tuberous sclerosis having Novel NRAS gene mutation

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +1 more source

Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

Case Reports in Pediatrics, 2014
Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports
Elena Castilla Cabanes, Isaac Lacambra Blasco   +1 more
doaj   +1 more source

Prophylactic Antiepileptic Treatment in Tuberous Sclerosis [PDF]

, 2020
Jóźwiak et al. suggest that their study, “…provides evidence that preventive antiepileptic treatment in infants with tuberous sclerosis complex improves long-term epilepsy control and cognitive outcome at school age.” The study is problematic, however ...
Mallick, AA, Patel, JS, Amin, S, Patel, Jayesh S, O'Callaghan, Finbar, O'Callaghan, F, Amin, Sam, Choudhury, P, Lux, Andrew L, Spaull, R, Mallick, Andrew A, Spaull, Robert, Choudhury, Prerna, Lux, AL   +13 more
core   +1 more source

Localizing value of cutaneous ictal phenomena: A systematic review

Epileptic Disorders, EarlyView.
Abstract Objective Clinical observation of autonomic signs during seizures can aid in localizing the epileptogenic zone (EZ). We performed a systematic review and meta‐analysis to evaluate the localizing value of ictal cutaneous phenomena—piloerection, sweating, pallor, and flushing—in focal epilepsy and their relevance to presurgical evaluation ...
R. Rocamora, L. Vilella, L. Panadés‐De Oliveira, F. Álvarez‐Gómez, T. Ibáñez, A. Celdrán, G. Zimmermann, R. Zucca   +7 more
wiley   +1 more source

Autism and Tuberous Sclerosis

, 2004
The co-occurrence of autism spectrum disorder and tuberous sclerosis complex has been recognized for decades. The prevalence of tuberous sclerosis complex in the autism spectrum disorder population is 1 to 4%, whereas features of autism spectrum ...
Max Wiznitzer
core   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 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  

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Case report on tuberous sclerosis [PDF]

, 2019
Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. Tuberous Sclerosis Complex or Bourneville’s disease, first described by Desiree Magloire Bourneville in 1880 has a prevalence of 1 in 6000 live birth.. It is a
Amit Kumar, Mohit Bajaj, Rattan Sagar, Swati Mahajan   +3 more
core   +1 more source