Auconi Marina, Serino Domenico, Digilio Maria Cristina, Gnazzo Maria, Conti Marta, Vigevano Federico, Fusco Lucia
Child Neurology Unit, Systems Medicine Department, Tor Vergata University Hospital of Rome, Rome, Italy.
Child Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.
Dev Med Child Neurol. 2023 May;65(5):712-720. doi: 10.1111/dmcn.15428. Epub 2022 Oct 4.
To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy.
Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome.
All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years.
In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome.
Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.
阐述一组患有KBG综合征和癫痫患者的癫痫学及脑电图（EEG）特征。
对11例（3例女性，8例男性）KBG综合征患者的临床病史、癫痫发作起始年龄、发作类型、脑电图结果、癫痫病程及治疗反应进行回顾性分析。
所有检测到的基因突变均为致病性突变，且影响ANKRD11基因第9外显子的C末端区域。1例患者存在包括ANKRD11基因在内的16q24.3微缺失。平均发病年龄为67个月。5例患者癫痫类型为局灶性，4例为全身性。2例患者患有发育性和癫痫性脑病。在15天至6年不等的一段时间后实现了无癫痫发作。
在我们的患者中，癫痫似乎对治疗反应良好，在某些情况下具有自限性。我们患者基因异常的分子特征未指向任何特定的癫痫热点区域。在对KBG综合征患者进行诊断检查时应考虑癫痫。
KBG综合征的某些癫痫类型似乎可自行缓解。与KBG综合征相关的癫痫表型差异很大。
