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Research paper

Sotos Syndrome — GeneReviews

Classic reference. NSD1 variants in 60-90% of Sotos patients. ~25% non-febrile seizures. Classically described as a nonprogressive neurologic disorder with distinctive overgrowth + DD + facial gestalt.

Indexed context

Tatton-Brown K, Cole TRP, Rahman N

sotosnsd1genereviews

Markdown path

content/research/papers/2024-tatton-brown-sotos-genereviews.md

Findings

Classic reference. NSD1 variants in 60-90% of Sotos patients. ~25% non-febrile seizures. Classically described as a nonprogressive neurologic disorder with distinctive overgrowth + DD + facial gestalt.

Why it may matter for Levi

Establishes the diagnostic framework for Sotos and flags that classical Sotos is nonprogressive — Levi's frank regression is therefore atypical for isolated Sotos but does not rule it out, especially if DEE-SWAS is layered on top.

Paper text

Sotos Syndrome — GeneReviews

Tatton-Brown K, Cole TRP, Rahman N — GeneReviews / NCBI Bookshelf (2024). https://www.ncbi.nlm.nih.gov/books/NBK1479/

Findings summary

Classic reference. NSD1 variants in 60-90% of Sotos patients. ~25% non-febrile seizures. Classically described as a nonprogressive neurologic disorder with distinctive overgrowth + DD + facial gestalt.

Relevance to Levi

Establishes the diagnostic framework for Sotos and flags that classical Sotos is nonprogressive — Levi's frank regression is therefore atypical for isolated Sotos but does not rule it out, especially if DEE-SWAS is layered on top.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
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  • Companion memo: content/research/notes/2026-04-16-literature-pass.md