Back to research

Research paper

Seizures in Sotos syndrome — Phenotyping in 49 patients

Largest Sotos seizure phenotyping cohort (49 patients, 15/20 with NSD1 pathogenic variants). Staring spells (67%) most common; febrile seizures and bilateral tonic-clonic each 51%; multiple seizure types in 67%; 18% drug-resistant; onset 3 months to 12 years.

Indexed context

Fortin O, et al.

sotosnsd1overgrowthpediatric-epilepsy

Markdown path

content/research/papers/2021-fortin-sotos-seizures.md

Findings

Largest Sotos seizure phenotyping cohort (49 patients, 15/20 with NSD1 pathogenic variants). Staring spells (67%) most common; febrile seizures and bilateral tonic-clonic each 51%; multiple seizure types in 67%; 18% drug-resistant; onset 3 months to 12 years.

Why it may matter for Levi

Frames what Sotos-related seizures look like and argues for formal NSD1 testing as part of the overgrowth-syndrome workup. Levi's DEE-SWAS semiology is not a typical Sotos presentation, but epilepsy is frequent enough to keep Sotos in the differential.

Paper text

Seizures in Sotos syndrome — Phenotyping in 49 patients

Fortin O, et al. — Epilepsia Open (2021). https://pmc.ncbi.nlm.nih.gov/articles/PMC8166795/

Findings summary

Largest Sotos seizure phenotyping cohort (49 patients, 15/20 with NSD1 pathogenic variants). Staring spells (67%) most common; febrile seizures and bilateral tonic-clonic each 51%; multiple seizure types in 67%; 18% drug-resistant; onset 3 months to 12 years.

Relevance to Levi

Frames what Sotos-related seizures look like and argues for formal NSD1 testing as part of the overgrowth-syndrome workup. Levi's DEE-SWAS semiology is not a typical Sotos presentation, but epilepsy is frequent enough to keep Sotos in the differential.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
  • No PDF ingested into storage/; canonical link is the URL above.
  • Companion memo: content/research/notes/2026-04-16-literature-pass.md