Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/26636
Title: Seizures in Sotos syndrome: Phenotyping in 49 patients.
Austin Authors: Fortin, Olivier;Vincelette, Christian;Khan, Afsheen Q;Berrahmoune, Saoussen;Dassi, Christelle;Karimi, Mitra;Scheffer, Ingrid E ;Lu, Jun;Davis, Kellie;Myers, Kenneth A
Affiliation: Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
Epilepsy Research Centre
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health
Division of Medical Genetics, Department of Pediatrics, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
School of Nursing, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada
Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
Department of Pediatrics, Haikou People's Hospital, Haikou, China
Issue Date: 2021
Date: 2021-03-28
Publication information: Epilepsia open 2021; 6(2): 425-430
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) were the most frequently reported semiology (33/49; 67%), followed by febrile seizures (25/49; 51%) and afebrile bilateral tonic-clonic seizures (25/49; 51%). Most patients (33/49; 67%) had multiple seizure types. The majority (33/49; 67%) had seizures controlled on a single antiseizure medication or no medication. Nine (18%) had drug-resistant epilepsy. Epilepsy syndromes included febrile seizures plus, Lennox-Gastaut syndrome, childhood absence epilepsy, and generalized tonic-clonic seizures alone. The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile tonic-clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well-controlled with medication, but drug-resistant epilepsy occurs in a minority.
URI: https://ahro.austin.org.au/austinjspui/handle/1/26636
DOI: 10.1002/epi4.12484
ORCID: 0000-0002-2311-2174
0000-0001-7831-4593
Journal: Epilepsia Open
PubMed URL: 34033256
Type: Journal Article
Subjects: NSD1
Sotos syndrome
febrile seizures
febrile seizures plus
Appears in Collections:Journal articles

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