Results 31 to 40 of about 358,265 (351)

Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China.

open access: yesBrain : a journal of neurology, 2020
At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy; for these patients, resective surgery is a treatment option.
Shiyong Liu   +35 more
semanticscholar   +1 more source

Tuberous Sclerosis Complex: A review of the past, present and future.

open access: yesTurkish Journal of Medical Sciences, 2020
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be ...
S. Uysal, M. Sahin
semanticscholar   +1 more source

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

open access: yesFrontiers in Neuroanatomy, 2020
Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development because the genes that cause TSC are known, many downstream molecular pathways have been identified, and the resulting perturbations of cellular events are ...
David M. Feliciano
semanticscholar   +1 more source

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. [PDF]

open access: yes, 2019
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC).
Beaure d'Augères, Guillaume   +29 more
core   +2 more sources

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

open access: yesFrontiers in Neurology, 2020
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood.
N. Specchio   +7 more
semanticscholar   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

open access: yes, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James   +4 more
core   +3 more sources

Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]

open access: yes, 2020
Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M.   +6 more
core   +1 more source

Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

open access: yesNeural Plasticity, 2012
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1)
Tanjala T. Gipson, Michael V. Johnston
doaj   +1 more source

Modeling Autistic Features in Animals [PDF]

open access: yes, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report

open access: yesFrontiers in Oncology, 2021
Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney.
Tetsuya Yamamoto   +14 more
doaj   +1 more source

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