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Brain abnormalities
Several types of brain abnormalities may be seen in individuals with tuberous sclerosis complex (TSC), including cortical tubers, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA). Some individuals will
TSC Research Matters Post
TSC2 Mutations Alter Brain Development Earlier Than Previously Understood
New research shows that TSC2 mutations may disrupt brain development at very early stages by changing the genome’s output through altered DNA methylation and gene regulation in neural progenitor cells. Using patient-derived stem cells, researchers found that TSC2-mutant cells developed abnormally
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Brain & neurological function
Multiple manifestations can occur in the brain of someone with TSC. Click on an item listed below to learn more: Brain abnormalities Epilepsy/seizure disorders In addition to these physical challenges,
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Simufilam Improves Seizure Outcomes in a Mouse Model of Tuberous Sclerosis Complex
A new study found that simufilam, an experimental oral drug, reduced seizure progression in a mouse model of tuberous sclerosis complex (TSC). Mice treated with medium and high doses of simufilam experienced fewer
TSC Research Matters Post
Understanding Tuberous Sclerosis Complex Through Phenotypic Clustering
In a new study using the TSC Alliance’s Natural History Database, researchers observed that different clinical diagnoses of tuberous sclerosis complex (TSC) may commonly co-occur, or cluster, in varying groups
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Study Links Sleep Problems in Tuberous Sclerosis Complex to Overactive mTOR and Orexin Signaling
A novel study led by Michael Wong, MD, PhD, suggests that sleep disturbances in tuberous sclerosis complex (TSC) may be driven by overactivation of the mTOR pathway, which increases levels
TSC Research Matters Post
TSC and Neurodegenerative Diseases: A Conversation with Andy Liu, MD, MS
Tuberous sclerosis complex (TSC) is a genetic condition due to mutations in TSC1 or TSC2 commonly diagnosed in the first few years of life. Advances in TSC research have allowed TSC patients to live well beyond