1. 中国癫痫基因1.0项目最新发现—「去泛素化酶USP25基因导致遗传性全面性癫痫」（2024-6-16）标签Heterozygous variants in USP25 cause genetic generalized epilepsy
  2. 国际合作发现新的神经发育障碍致病基因UNC79（2023-6-9）标签A new neurodevelopmental disorder linked to heterozygous variants in UNC79
  3. 广州医科大学廖卫平教授研究团队发现新的人类致病基因—UNC13B（2021-4-27）标签UNC13B variants associated with partial epilepsy with favorable outcome
  4. 广医二院廖卫平教授团队又一重大发现解密新的癫痫致病基因HCFC1及其亚分子效应（2023-7-25）标签HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism
  5. 中国癫痫基因1.0项目多中心合作发现新的癫痫致病基因-MPDZ（2023-7-26）MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation
  6. 广医二院综合癫痫中心团队发现新的癫痫致病基因-BSN基因（2022-12-28）Variants in BSN gene associated with epilepsy with favorable outcome
  7. 贵州青年医生在我院癫痫中心进修学习期间发现新的癫痫致病基因BRWD3（2022-12-21）Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability
  8. 中国癫痫基因1.0项目发现第12个新的癫痫致病基因-CELSR1（2022-8-15）CELSR1 variants are associated with partial epilepsy of childhood
  9. 广东青年医生发现新的癫痫致病基因—ATP6V0C 中国癫痫基因1.0项目新突破（2022-6-7）ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
  10. 新发现：原多囊肾基因PKD1是新的重要的癫痫致病基因（2022-5-11）Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
  11. 中国癫痫基因1.0项目再发现新的癫痫致病基因-AFF2（2022-4-1）AFF2 is associated with X-linked partial (focal) epilepsy with antecedent febrile seizures
  12. 中国癫痫基因1.0项目再发现新的癫痫致病基因-CELSR3（2021-12-26）CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures
  13. 新的癫痫致病基因- CHD4基因—中国癫痫基因1.0项目又一发现（2021-6-17）CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia
  14. 「CAAE中国癫痫基因1.0项目」重要成果——「癫痫全外显子测序结果分析进修班」首期学员发现新的癫痫类型与致病基因（2021-3-12）YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism
  15. PGM3基因为新的癫痫致病基因——中国癫痫基因1.0项目初见成效（2020-11-11）Heterozygous PGM3 variants are associated with idiopathic focal epilepsy with incomplete penetrance
  1. 中国癫痫基因1.0项目最新发现—「去泛素化酶USP25基因导致遗传性全面性癫痫」（2024-6-16）标签Heterozygous variants in USP25 cause genetic generalized epilepsy
  2. 国际合作发现新的神经发育障碍致病基因UNC79（2023-6-9）标签A new neurodevelopmental disorder linked to heterozygous variants in UNC79
  3. 广州医科大学廖卫平教授研究团队发现新的人类致病基因—UNC13B（2021-4-27）标签UNC13B variants associated with partial epilepsy with favorable outcome
  4. 广医二院廖卫平教授团队又一重大发现解密新的癫痫致病基因HCFC1及其亚分子效应（2023-7-25）标签HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism
  5. 中国癫痫基因1.0项目多中心合作发现新的癫痫致病基因-MPDZ（2023-7-26）MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation
  6. 广医二院综合癫痫中心团队发现新的癫痫致病基因-BSN基因（2022-12-28）Variants in BSN gene associated with epilepsy with favorable outcome
  7. 贵州青年医生在我院癫痫中心进修学习期间发现新的癫痫致病基因BRWD3（2022-12-21）Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability
  8. 中国癫痫基因1.0项目发现第12个新的癫痫致病基因-CELSR1（2022-8-15）CELSR1 variants are associated with partial epilepsy of childhood
  9. 广东青年医生发现新的癫痫致病基因—ATP6V0C 中国癫痫基因1.0项目新突破（2022-6-7）ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
  10. 新发现：原多囊肾基因PKD1是新的重要的癫痫致病基因（2022-5-11）Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
  11. 中国癫痫基因1.0项目再发现新的癫痫致病基因-AFF2（2022-4-1）AFF2 is associated with X-linked partial (focal) epilepsy with antecedent febrile seizures
  12. 中国癫痫基因1.0项目再发现新的癫痫致病基因-CELSR3（2021-12-26）CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures
  13. 新的癫痫致病基因- CHD4基因—中国癫痫基因1.0项目又一发现（2021-6-17）CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia
  14. 「CAAE中国癫痫基因1.0项目」重要成果——「癫痫全外显子测序结果分析进修班」首期学员发现新的癫痫类型与致病基因（2021-3-12）YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism
  15. PGM3基因为新的癫痫致病基因——中国癫痫基因1.0项目初见成效（2020-11-11）Heterozygous PGM3 variants are associated with idiopathic focal epilepsy with incomplete penetrance

中国癫痫基因1.0项目

癫痫是一种常见的疾病，仅在中国就有超过900万患者受到癫痫疾病的困扰。然而，大多数癫痫患者的病因尚不清楚。基因研究表明，基因异常在癫痫发病过程中起着重要作用。随着科学技术的日益发展，更多患者可通过基因检测技术进一步明确病因，但如何正确解读基因检测结果是我们所面临的一大挑战。中国抗癫痫协会（CAAE）现已启动中国癫痫基因1.0 (C-epg1.0)项目，其主要目标是将癫痫基因检测在临床中得到更好的应用 ，在癫痫诊断和治疗中发挥更大的作用。临床癫痫专家、科学家以及基因检测专家将在此项目中合作。我们初步计划通过家庭三人组（患者与父母）进行外显子测序或全基因组测序，对1万例无获得性病因的癫痫患者进行基因检测，并培养能进行基因检测结果分析和判读的癫痫专家。除了科学研究外，每位患者的基因检测结果将被单独进行分析。我们将为每位患者提供可能的遗传诊断和治疗建议。同时，我们正努力寻找新的基因、新表型以及遗传损伤和临床严重程度间的相互关系。我们希望通过癫痫学家、患者和序列变异解读专家更密切的互动，建立评估遗传变异因果的新方法，并结合临床信息提供个体化治疗策略。

China Epilepsy Gene 1.0

Epilepsy is a common disorder that affects more than 9 million people in China. The causes of epilepsy were unknown in majority patients. Genetic studies suggest that gene abnormality plays an important role in the pathogenesis of epilepsy. With the advance of techniques, genetic test has become available for many patients. However, how to interpret the results from genetic test is challenging. China Association Against Epilepsy (CAAE) launched the China Epilepsy Gene 1.0 (C-epg1.0) Project, aiming to make the genetic test helpful for diagnosis and management of epilepsy in clinical practice. Epileptologists, scientists, and experts in genetic test will work together in this project. We preliminarily plan to have genetic tests in 10,000 patients with epilepsy that had no acquired causes, in trios by whole exon sequencing or whole gene sequencing; and to have 1,000 epileptologists trained in interpreting the results from genetic tests. In addition to scientific studies, the genetic test results will be analyzed individually. Possible genetic diagnosis and suggestions on management will be provided for each patient. We also look for new genes, new phenotypes, and the correlations between genetic impairment and clinical severity. We hope that by closer interactions between epileptologists, patients, and interpreters of sequence variants, that we will be able to provide methods of evaluating the causality of genetic variants with consideration on clinical information and strategies of individualized therapy.