Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tonz syndrome: first reported case in China and literature review

作者全名："Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li"

作者地址："[Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li] Chongqing Med Univ, Childrens Hosp, Dept Neurol, Chongqing, Peoples R China; [Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li] Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China; [Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li] China Int Sci & Technol Cooperat Base Child Dev &, Chongqing, Peoples R China; [Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li] Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China; [Meng, Linxue; Huang, Dishu; Xie, Lingling; Song, Xiaojie; Luo, Hanyu; Gui, Jianxiong; Ding, Ran; Zhang, Xiaofang; Jiang, Li] Chongqing Key Lab Pediat, Chongqing, Peoples R China"

通信作者："Jiang, L (通讯作者)，Chongqing Med Univ, Childrens Hosp, Dept Neurol, Chongqing, Peoples R China.; Jiang, L (通讯作者)，Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China.; Jiang, L (通讯作者)，China Int Sci & Technol Cooperat Base Child Dev &, Chongqing, Peoples R China.; Jiang, L (通讯作者)，Minist Educ, Key Lab Child Dev & Disorders, Chongqing, Peoples R China.; Jiang, L (通讯作者)，Chongqing Key Lab Pediat, Chongqing, Peoples R China."

来源：BMC MEDICAL GENOMICS

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:001106182700003

JCR分区：Q3

影响因子：2.1

年份：2023

卷号：16

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Kohlschutter-Tonz syndrome; ROGDI gene; Perampanel; Epilepsy; Developmental delay

摘要："Purpose This study reported the first case of Kohlschutter-Tonz syndrome (KTS) in China and reviewed the literature of the reported cases.Methods This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschutter-Tonz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER.Results This is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI-related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported.Conclusion ROGDI-related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed."

基金机构：We thank this patient and her parents for their generous contribution and cooperation. We also thank all the clinicians and therapists treated this patient for six years. We would also like to thank all the authors of the review articles and the patients t

基金资助正文：We thank this patient and her parents for their generous contribution and cooperation. We also thank all the clinicians and therapists treated this patient for six years. We would also like to thank all the authors of the review articles and the patients they reported for their extended coverage of the disease.