Article
Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.
Neurology - 11 Jul 2023
Lee Wei Shern, Macdonald-Laurs Emma, Stephenson Sarah, D'Arcy Colleen, Maixner Wirginia, Harvey A Simon, Lockhart Paul J, Leventer Richard J
Abstract excerpt
OBJECTIVE: To describe a child meeting diagnostic criteria for tuberous sclerosis complex (TSC) carrying a pathogenic somatic variant in RHEB, but no pathogenic variants in the 2 known TSC genes, TSC1 or TSC2. METHODS: We present the clinical and imaging findings in a child presenting with drug-resistant focal seizures and multiple cortical tubers, a subependymal giant cell astrocytoma and multiple subependymal...
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