Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
School of Nursing, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada.
Epilepsia Open. 2021 Jun;6(2):425-430. doi: 10.1002/epi4.12484. Epub 2021 Apr 9.
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.
我们旨在描述 Sotos 综合征（一种涉及过度生长、大头畸形、发育异常和学习障碍的遗传疾病，其中 60%-90%存在 NSD1 致病性变异）患者的癫痫发作表型谱。患者从诊所招募，并从支持小组转介。纳入有癫痫发作且临床诊断为 Sotos 综合征的患者。通过结构化临床访谈和病历回顾收集表型数据。共纳入 49 例患者。其中 20 例有 NSD1 检测结果；其中 15 例（75%）存在 NSD1 致病性变异。癫痫发作起始年龄为 3 个月至 12 岁。凝视发作（失神或局灶性意识障碍性癫痫发作）是最常报告的症状学表现（33/49；67%），其次是热性惊厥（25/49；51%）和无热双侧强直阵挛性发作（25/49；51%）。大多数患者（33/49；67%）有多种癫痫发作类型。大多数（33/49；67%）患者使用单一抗癫痫药物或无需药物治疗即可控制癫痫发作。9 例（18%）患有耐药性癫痫。癫痫综合征包括热性惊厥附加症、Lennox-Gastaut 综合征、儿童失神性癫痫和全面强直阵挛性癫痫单独发作。Sotos 综合征的癫痫发作表型最常涉及凝视发作、无热强直阵挛性发作或热性惊厥；然而，也可能发生其他类型的癫痫发作。癫痫发作通常通过药物得到很好的控制，但耐药性癫痫在少数患者中发生。
