Seizures in Sotos syndrome: Phenotyping in 49 patients

Abstract

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Sotos syndrome and the added value of genetic workup in epilepsy surgery

“…In the context of the case series presented by Fortin et al, 1 which indicates that patients with seizures and Sotos syndrome have favorable outcomes in terms of seizure control, our case clearly represents a rare exception in terms of poor seizure control. Yet, the rarer cases of drug‐resistant epilepsy in Sotos syndrome can pose important diagnostic challenges that should be taken into account.…”

“…In line with previous reports, 2 seizures in these patients usually respond to antiseizure drug treatment, with only a small fraction of patients having a drug‐resistant epilepsy. The high prevalence of “staring spells” by Fortin et al 1 suggests a high incidence of focal seizures with impaired awareness. Yet, no potentially epileptogenic focal lesions were noted on neuroimaging.…”

“…We read with great interest the study by Fortin et al 1 describing the phenotypic spectrum of seizures and epilepsy in 49 patients with Sotos syndrome based on a structured clinical interview and chart review. The authors report patients’ seizure semiologies, with more than two‐thirds showing “staring spells,” half showing afebrile generalized tonic‐clonic seizures and half having a history of febrile convulsions.…”

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population

“…For newborns with limb shaking and suspected convulsions, visually evoked EEG suggests epileptic discharge, which can be treated using antiepileptic drugs. The seizure phenotype of Sotos syndrome generally includes gaze seizures, anthermic tonic-clonic seizures, or thermal convulsions, and is usually well controlled by medication [ 15 ]. For children with mental and motor retardation, rehabilitation assessment and treatment should be carried out at the earliest opportunity.…”

Response: Sotos Syndrome and the added value of genetic workup in epilepsy surgery

“…I thank Bättig et al for their very interesting letter in response to our paper, “Seizures in Sotos syndrome: Phenotyping in 49 patients.” 1 They recently described a patient with drug‐resistant focal epilepsy and a diffuse astrocytoma, who continued to have seizures following resection of the lesion. 2 The patient was subsequently diagnosed with Sotos syndrome and found to carry a pathogenic variant in NSD1 .…”