Article
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.
Pediatric neurology - 1 Dec 2024
Man Alice, Di Scipio Matteo, Dale Breanne, Marques Paula Teixeira, Birbeck Cynthia Sloan, Jain Puneet, Trinari Elisabetta, Ejaz Resham, Whitney Robyn
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by inactivating variants in the mTOR pathway inhibitor genes TSC1 and TSC2. Individuals with TSC are predisposed to benign tumors in multiple organs as well as TSC-associated neuropsychiatric disorders (TAND) and epilepsy. Pathogenic variants in TSC2 are typically associated with a more severe phenotype compared with TSC1; the TSC2...
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