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Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

中国科学:生命科学英文版 2023年第9期66卷 2152-2166页

作者： Shiyue Du Sheng Zeng Li Song Hongying Ma Rui Chen Junyu Luo Xu Wang Tingbin Ma Xuan Xu Hao Sun Ping Yi Jifeng Guo Yaling Huang Mugen Liu Tao Wang Wei-Ping Liao Luoying Zhang Jing Yu Liu Beisha Tang Key Laboratory of Molecular Biophysics of Ministry of Education College of Life Science and TechnologyHuazhong University of Science and Technology(HUST)Wuhan 430074China Department of Neurology Xiangya HospitalCentral South UniversityChangsha 410008China Department of Geriatrics The Second Xiangya HospitalCentral South UniversityChangsha 410011China National Reference Laboratory of Veterinary Drug Residues and MAO Key Laboratory for Detection of Veterinary Drug Residues Huazhong Agricultural UniversityWuhan 430070China Institute of Neuroscience State Key Laboratory of NeuroscienceCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China Department of Neurology Union Hospital of HUSTWuhan 430022China Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of ChinaGuangzhou Medical UniversityGuangzhou 510260China Hubei Province Key Laboratory of Oral and Maxillofacial Development and Regeneration Wuhan 430022China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangsha 410008China

focal epilepsy accounts for 60% of all forms of epilepsy, but the pathogenic mechanism is not well understood. In this study,three novel mutations in NPRL3(nitrogen permease regulator-like 3), c.937_945del, c.1514dup C and 6,706-bp genomic DNA(g DNA) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing(WES) and Sanger sequencing. NPRL3 protein is a component of the GATOR1 complex, a major inhibitor of m TOR signaling. These mutations led to truncation of the NPRL3 protein and hampered the binding between NPRL3 and DEPDC5, which is another component of the GATOR1 complex. Consequently, the mutant proteins enhanced m TOR signaling in cultured cells, possibly due to impaired inhibition of m TORC1 by GATOR1. Knockdown of nprl3 in Drosophila resulted in epilepsy-like behavior and abnormal synaptic development. Taken together, these findings expand the genotypic spectrum of NPRL3-associated focal epilepsy and provide further insight into how NPRL3 mutations lead to epilepsy.

关键词： focal epilepsy NPRL3 GATOR1 mTOR abnormal synaptic development

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Tall gastrodis tuber combined with antiepileptic drugs repairs abnormal perfusion foci in focal epilepsy

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Neural Regeneration Research 2013年第3期8卷 208-217页

作者： Weimin Wang Zhenyu Fan Yongqin Zhang Yuxia Yang Yaqing Liu Xiaoli Dang Wenjun Song Yinping Wu Jiang Ye epilepsy Center Second HospitalLanzhou UniversityGansu Provincial Center for Prevention and Treatment of Epilepsy

One hundred patients with focal epilepsy were recruited for the present study and their seizures controlled with antiepileptic drugs. The patients then orally received a capsule of tall gastrodis tuber powder, a traditional Chinese drug, and underwent single photon emission computed tomography, long-term electroencephalogram, and CT/MRI. Blood drug levels were monitored throughout the study. Before treatment with tall gastrodis tuber, 35 of the 100 cases had abnormal CT/MRI scans; 79 cases had abnormal single photon emission computed tomography images; 86 cases had abnormal electroencephalogram; and a total of 146 abnormal perfusion foci were observed across the 100 subjects. After treatment, the number of patients with normal single photon emission computed tomography images increased by 12; normal electroencephalogram was observed in an additional 27 cases and the number of patients with epileptiform discharge decreased by 29 （34% of 86）; the total number of abnormal perfusion foci decreased by 52 （36%） and changes in abnormal loci were visible in 65 patients. These changes indicate that the administration of tall gastrodis tuber in combination with antiepileptic drugs repairs abnormal perfusion foci in patients with focal epilepsy Our results demonstrate that traditional Chinese drugs can repair abnormal perfusion foci and, as such, are a promising new pathway in the treatment of focal epilepsy.

关键词： neural regeneration traditional Chinese medicine neuroimaging brain injury tall gastrodis tuber antiepileptic drugs combination therapy focal epilepsy abnormal perfusion focus single photonemission computed tomography long-term vigilance-controlled electroencephalogram region ofinterest grant-supported paper photographs-containin^l paper: neuoreaeneration

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Absence seizures in lesion‑related epilepsy

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Acta Epileptologica 2023年第3期6卷 148-162页

作者： Xiaoqin Sun Miao Wang Zeng He Lihong Liu Xianjun Shi Chunqing Zhang Ning An Meihua Yang Zhifeng Wu Ruodan Wang Li Wang Zhongke Wang Hui Yang Xiaolin Yang Shiyong Liu Department of Neurosurgery Second Affiliated HospitalArmy Medical University183 Xinqiao Main StreetShapingba DistrictChongqing 400037China Department of Pediatrics Second Affiliated HospitalArmy Medical University183 Xinqiao Main StreetShapingba DistrictChongqing 400037China Department of Neurology Second Affiliated HospitalArmy Medical University183 Xinqiao Main StreetShapingba DistrictChongqing 400037China Department of Neurosurgery Armed Police HospitalChongqing 400037China Chongqing Institute for Brain and Intelligence Guangyang Bay LaboratoryChongqing 400037China

Background In the new International League Against epilepsy(ILAE)classification of seizure types,generalized seizures such as absence seizures(ASs)may originate from a focal point and rapidly spread to the bilaterally distributed brain *** evidence from animal and clinical studies has indicated that focal changes may occur prior to ASs;however,the relationship of ASs with epileptogenic lesions remains *** We retrospectively collected and analyzed the clinical,imaging,and electrophysiological data of 16 patients who had ASs and structural lesions with seizure-free outcomes after lesion *** In semiology analysis,nine patients displayed focal onset;only two patients showed simple ASs,and seizure types other than ASs were observed in the remaining *** ictal electroencephalography(EEG),four patients showed bilateral synchronous symmetric 3 Hz generalized spike-wave discharges(GSWDs),and the remaining patients showed bilateral 1.5–2.5 Hz ***,most patients(13/16,81.3%)exhibited focal features in addition to ASs,while interictal EEG was the same in 12 ***,on stereoelectroencephalogram(SEEG),2/5 patients showed focal discharges before bilateral burst ***,all patients had structural lesions on *** four typical AS patients,the lesions were located in deep brain ***,in 9 patients(9/16,56%),the lesions were located in the posterior *** patients underwent lesion resection and had seizure-free outcomes during follow-up,and intelligence quotient(IQ)also improved by 10.71±3.90 one year after *** Patients with lesion-related epilepsy may present with ASs that have a focal onset and are associated with good surgical outcomes.

关键词： Absence seizure Lesion-related epilepsy focal epilepsy Lennox-Gastaut syndrome

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