Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.

Abstract excerpt

RATIONALE: Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous syndrome resulting from mutations in the tumor suppressor genes TSC1 and TSC2. Unfortunately, the absence of accurate diagnosis has significantly impacted the well-being of both patients and their families. Furthermore, the pathogenicity of numerous variants remains unverified, which could potentially result in misinterpretation of their...

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