TSC2 and epilepsy: The recurrent TSC2 c.5126C>T variant was previously noted in distinguishable ethnic origins, indicating that it may be a hot variant spot rather than a founder variant.10-17 Most patients with this variant were sporadic and presented with similar clinical manifestations, including dermatologic features, epilepsy, brain lesions, and renal abnormalities, while detailed clinical descriptions for some patients with TSC2 c.5126C>T variant were absent in previous reports (Table-I).