Journal article

Seizures in Sotos syndrome: Phenotyping in 49 patients

Olivier Fortin, Christian Vincelette, Afsheen Q Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E Scheffer, Jun Lu, Kellie Davis, Kenneth A Myers

EPILEPSIA OPEN | WILEY | Published : 2021

Abstract

We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%-90% have NSD1 pathogenic variants. Patients were recruited from clinics and referral from support groups. Those with seizures and a clinical diagnosis of Sotos syndrome were included. Phenotyping data were collected via structured clinical interview and chart review. Forty-nine patients were included. Twenty had NSD1 testing results available; of these, 15 (75%) had NSD1 pathogenic variants. Seizure onset age ranged from 3 months to 12 years. Staring spells (absence or focal impaired awareness seizure) w..

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University of Melbourne Researchers