Aydın Obstetrics and Gynecology Hospital, Genetic Diseases Diagnosis Center - Aydın, Turkiye.
Fırat University, Faculty of Medicine, Pediatric Neurology - Elazığ, Turkiye.
Rev Assoc Med Bras (1992). 2023 Oct 9;69(10):e20230547. doi: 10.1590/1806-9282.20230547. eCollection 2023.
Childhood epilepsy is a common neurological disorder with a prevalence of 300-600 cases per 100,000 people. It is associated with refractory epilepsies, global developmental delay, and epileptic encephalopathies, causing epileptic syndromes characterized by cognitive and behavioral disorders.
In this retrospective cohort study, patients with refractory epilepsy and global developmental delay, defined as epileptic encephalopathy, who applied to the Aydın 7Maternity and Children's Hospital Genetic Diagnosis Center and were followed in the pediatric neurology clinic of our hospital, between July 2018 and July 2021, were included.
Targeted next-generation sequencing molecular genetics results were reviewed, and 3 ALDH7A1, 1 AARS, 3 CACNA1A, 1 CTNNB1, 1 DCX, 2 DBH, 2 DOCK7, 1 FOLR1, 2 GABRB3, 2 GCH1, 1 VGRIN2B, 1 GUF1, 3 KCNQ2, 2 KCNT1, 1 NECAP1, 1 PCDH19, 1 PNPO, 1 SCN8A, 1 SCN9A, 4 SCN1A, 2 SLC25A22, 1 SLC2A1, 2 SPTAN1, 2 SZT2, 4 TBC1D24, 2 TH, and 1 PCDH19 (X chromosome) mutations were detected in three of the patients using the next-generation sequencing method.
Although the development of gene panels aids in diagnosis, there are still unidentified disorders in this illness category, which is highly variable in genotype and phenotype. Understanding the genetic etiology is vital for genetic counseling and, maybe, the future development of remedies for the etiology.
儿童癫痫是一种常见的神经系统疾病，其发病率为每 10 万人中有 300-600 例。它与难治性癫痫、全球发育迟缓以及癫痫性脑病有关，导致以认知和行为障碍为特征的癫痫综合征。
在这项回顾性队列研究中，纳入了 2018 年 7 月至 2021 年 7 月期间向阿伊登 7 母婴儿童医院遗传诊断中心申请并在我院儿科神经病学诊所就诊的难治性癫痫和全球发育迟缓（定义为癫痫性脑病）患者。
回顾了靶向下一代测序分子遗传学结果，在 3 名患者中发现了 1 个 ALDH7A1、1 个 AARS、3 个 CACNA1A、1 个 CTNNB1、1 个 DCX、2 个 DBH、2 个 DOCK7、1 个 FOLR1、2 个 GABRB3、2 个 GCH1、1 个 VGRIN2B、1 个 GUF1、3 个 KCNQ2、2 个 KCNT1、1 个 NECAP1、1 个 PCDH19、1 个 PNPO、1 个 SCN8A、1 个 SCN9A、4 个 SCN1A、2 个 SLC25A22、1 个 SLC2A1、2 个 SPTAN1、2 个 SZT2、4 个 TBC1D24、2 个 TH 和 1 个 PCDH19（X 染色体）突变。
尽管基因面板的发展有助于诊断，但在这种疾病类别中仍存在未识别的疾病，其基因型和表型高度多样化。了解遗传病因对于遗传咨询至关重要，也许对于病因的未来治疗方法的发展也至关重要。
