Abstract：
BACKGROUND: Epilepsy is a hallmark of IQSEC2-related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy.
METHODS: Data including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in patients with IQSEC2-related epilepsy referring to 8 Italian tertiary centres.
RESULTS: The reported cohort included 11 patients (8 males and 3 females). Mean age at the onset of epilepsy was 3.90±2.80 years. No cases were reported in the first year of life. No specific epileptic syndromes were recognized. Predominant seizure-types in the age range 12-36 months included focal onset tonic seizures with impaired awareness, myoclonic seizures, and late onset spasms. Generalized motor seizures were predominant in patients between 3 and 6 years and between 12 and 18 years while focal motor seizures with impaired awareness were the most represented types between 6 and 12 years. No patients experienced status epilepticus. EEG patterns included a delayed maturation of EEG organization, irregular focal or diffuse slow activity, multifocal or diffuse epileptiform abnormalities. No structural epileptogenic lesions were detected at MRI. Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most used antiseizure medication. Complete seizure freedom was achieved only in 2 patients.
CONCLUSIONS: Onset of epilepsy after the first year of age, predominance of focal seizures with impaired awareness and generalized motor seizures, no pathognomonic underlying epileptic syndrome and infrequent occurrence of status epilepticus emerged as the main features of IQSEC2-related epilepsy phenotype.
METHODS: Data including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in patients with IQSEC2-related epilepsy referring to 8 Italian tertiary centres.
RESULTS: The reported cohort included 11 patients (8 males and 3 females). Mean age at the onset of epilepsy was 3.90±2.80 years. No cases were reported in the first year of life. No specific epileptic syndromes were recognized. Predominant seizure-types in the age range 12-36 months included focal onset tonic seizures with impaired awareness, myoclonic seizures, and late onset spasms. Generalized motor seizures were predominant in patients between 3 and 6 years and between 12 and 18 years while focal motor seizures with impaired awareness were the most represented types between 6 and 12 years. No patients experienced status epilepticus. EEG patterns included a delayed maturation of EEG organization, irregular focal or diffuse slow activity, multifocal or diffuse epileptiform abnormalities. No structural epileptogenic lesions were detected at MRI. Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most used antiseizure medication. Complete seizure freedom was achieved only in 2 patients.
CONCLUSIONS: Onset of epilepsy after the first year of age, predominance of focal seizures with impaired awareness and generalized motor seizures, no pathognomonic underlying epileptic syndrome and infrequent occurrence of status epilepticus emerged as the main features of IQSEC2-related epilepsy phenotype.
摘要：
背景：癫痫是IQSEC2相关脑病的一个标志，其表型变异性介于早发性癫痫和发育性脑病与X连锁智力障碍伴癫痫之间。
方法：数据包括人口统计方面，基因变异，癫痫发作符号学和时机，脑电图特征，我们回顾性收集了来自意大利8个三级中心的IQSEC2相关癫痫患者的神经影像学和治疗反应.
结果：报告的队列包括11名患者（8名男性和3名女性）。癫痫发作的平均年龄为3.90±2.80岁。在生命的第一年没有病例报告。未发现特定的癫痫综合征。12-36个月年龄范围内的主要癫痫发作类型包括意识受损的局灶性发作性强直性癫痫发作，肌阵挛性癫痫发作,和迟发性痉挛.广泛性运动性癫痫发作在3至6岁和12至18岁之间的患者中占主导地位，而意识受损的局灶性运动性癫痫发作在6至12岁之间是最有代表性的类型。无患者出现癫痫持续状态。脑电图模式包括脑电图组织的延迟成熟，不规则的局灶性或弥漫性缓慢活动，多灶性或弥漫性癫痫样异常。MRI未检测到结构性致癫痫性病变。丙戊酸钠,拉莫三嗪,Clobazam,托吡酯和左乙拉西坦是最常用的抗癫痫药物。仅在2例患者中实现了完全的癫痫发作自由。
结论：一岁后癫痫发作，意识受损的局灶性癫痫发作和全身性运动性癫痫发作占优势，IQSEC2相关癫痫表型的主要特征是未出现潜在的癫痫综合征和罕见的癫痫持续状态。
方法：数据包括人口统计方面，基因变异，癫痫发作符号学和时机，脑电图特征，我们回顾性收集了来自意大利8个三级中心的IQSEC2相关癫痫患者的神经影像学和治疗反应.
结果：报告的队列包括11名患者（8名男性和3名女性）。癫痫发作的平均年龄为3.90±2.80岁。在生命的第一年没有病例报告。未发现特定的癫痫综合征。12-36个月年龄范围内的主要癫痫发作类型包括意识受损的局灶性发作性强直性癫痫发作，肌阵挛性癫痫发作,和迟发性痉挛.广泛性运动性癫痫发作在3至6岁和12至18岁之间的患者中占主导地位，而意识受损的局灶性运动性癫痫发作在6至12岁之间是最有代表性的类型。无患者出现癫痫持续状态。脑电图模式包括脑电图组织的延迟成熟，不规则的局灶性或弥漫性缓慢活动，多灶性或弥漫性癫痫样异常。MRI未检测到结构性致癫痫性病变。丙戊酸钠,拉莫三嗪,Clobazam,托吡酯和左乙拉西坦是最常用的抗癫痫药物。仅在2例患者中实现了完全的癫痫发作自由。
结论：一岁后癫痫发作，意识受损的局灶性癫痫发作和全身性运动性癫痫发作占优势，IQSEC2相关癫痫表型的主要特征是未出现潜在的癫痫综合征和罕见的癫痫持续状态。
