| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Song Su, Ying Ren, Hongwei Zhang, Yi Liu, Yong Liu, Zilong Li, Tong Zhang, Fang Fan. Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy. Stem cell research. vol 81. 2024-10-19. PMID:39426047. |
establishment of a transgene-free ips cell line (sdchi002-a) from a young patient bearing a nprl3 mutation and suffering from epilepsy. |
2024-10-19 |
2024-10-22 |
Not clear |
| Song Su, Ying Ren, Hongwei Zhang, Yi Liu, Yong Liu, Zilong Li, Tong Zhang, Fang Fan. Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy. Stem cell research. vol 81. 2024-10-19. PMID:39426047. |
in this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a nitrogen perntease regulator like 3 protein (nprl3) mutation and suffering from epilepsy verified by clinical and genetic diagnosis. |
2024-10-19 |
2024-10-22 |
Not clear |
| Yongli Li, Yifan Yang, Jigang Qiu, Liangliang L. [Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 41. issue 10. 2024-09-30. PMID:39344616. |
[clinical and genetic analysis of a chinese pedigree affected with familial focal epilepsy with variable foci due to variant of nprl3 gene]. |
2024-09-30 |
2024-10-02 |
Not clear |
| Maéline Muller, Jasmine Bélanger, Imane Hadj-Aissa, Conghao Zhang, Chantelle F Sephton, Paul A Dutcha. GATOR1 Mutations Impair PI3 Kinase-Dependent Growth Factor Signaling Regulation of mTORC1. International journal of molecular sciences. vol 25. issue 4. 2024-02-24. PMID:38396745. |
genetic mutations in the gator1 subunits, nprl2 (nitrogen permease regulator-like 2), nprl3 (nitrogen permease regulator-like 3), and depdc5 (dep domain containing 5), have been associated with epilepsy in humans; however, the specific effects of these mutations on gator1 function and mtorc1 regulation are not well understood. |
2024-02-24 |
2024-02-26 |
Not clear |
| Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, Simone A Mandelstam, Wei Shern Lee, Matthew Coleman, Sarah E M Stephenson, Sarah Barton, Colleen D'Arcy, Paul J Lockhart, Richard J Leventer, A Simon Harve. The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia. Brain : a journal of neurology. 2023-11-08. PMID:37939785. |
genetic testing yielded pathogenic mtor pathway variants in 63% patients, including somatic mtor variants in 47% operated patients and germline depdc5 or nprl3 variants in 73% patients with familial focal epilepsy. |
2023-11-08 |
2023-11-20 |
Not clear |
| Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Rua. Phenotypic and Genotypic Characterization of NPRL3-Related Epilepsy: Two Case Reports and Literature Review. Epilepsia open. 2023-10-30. PMID:37902097. |
we reported two novel nprl3 variants in two unrelated epilepsy cases, including a nonsense (c.1174c>t, p.gln392*) and a missense variant (c.1322c>t, p.thr441met). |
2023-10-30 |
2023-11-08 |
Not clear |
| Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Rua. Phenotypic and Genotypic Characterization of NPRL3-Related Epilepsy: Two Case Reports and Literature Review. Epilepsia open. 2023-10-30. PMID:37902097. |
in addition, it may be worthwhile to consider the existence of nprl3 mutations in epilepsy patients with a family history. |
2023-10-30 |
2023-11-08 |
Not clear |
| Patrick B Moloney, Hugh Kearney, Katherine A Benson, Daniel J Costello, Gianpiero L Cavalleri, Kathleen M Gorman, Bryan J Lynch, Norman Delant. Everolimus precision therapy for the GATOR1-related epilepsies: a case series. European journal of neurology. 2023-07-09. PMID:37422919. |
pathogenic variants in the gap activity towards rags 1 (gator1) complex genes (depdc5, nprl2, nprl3) cause focal epilepsy through hyperactivation of the mechanistic target of rapamycin pathway. |
2023-07-09 |
2023-08-14 |
Not clear |
| Hao Wang, Wenwei Liu, Yuehua Zhang, Qingzhu Liu, Lixin Cai, Yuwu Jian. Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. Epilepsia open. 2023-06-01. PMID:37259768. |
to summarize the clinical features of epilepsy related to depdc5, nprl2, and nprl3 genes encoding the gator1 complex in children, and to evaluate the factors affecting the prognosis of these epilepsies. |
2023-06-01 |
2023-08-14 |
Not clear |
| Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hon. The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. PloS one. vol 18. issue 4. 2023-04-26. PMID:37099548. |
the clinical features of familial focal epilepsy with variable foci and nprl3 gene variant. |
2023-04-26 |
2023-08-14 |
Not clear |
| Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hon. The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. PloS one. vol 18. issue 4. 2023-04-26. PMID:37099548. |
familial focal epilepsy with variable foci (ffevf) is a rare type of focal epilepsy syndrome; it is associated with nprl3 variant. |
2023-04-26 |
2023-08-14 |
Not clear |
| 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 Tan. Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. Science China. Life sciences. 2023-04-18. PMID:37071290. |
functional characterization of novel nprl3 mutations identified in three families with focal epilepsy. |
2023-04-18 |
2023-08-14 |
drosophila_melanogaster |
| 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 Tan. Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. Science China. Life sciences. 2023-04-18. PMID:37071290. |
in this study, three novel mutations in nprl3 (nitrogen permease regulator-like 3), c.937_945del, c.1514dupc and 6,706-bp genomic dna (gdna) deletion, were identified in three families with focal epilepsy by linkage analysis, whole exome sequencing (wes) and sanger sequencing. |
2023-04-18 |
2023-08-14 |
drosophila_melanogaster |
| 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 Tan. Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. Science China. Life sciences. 2023-04-18. PMID:37071290. |
taken together, these findings expand the genotypic spectrum of nprl3-associated focal epilepsy and provide further insight into how nprl3 mutations lead to epilepsy. |
2023-04-18 |
2023-08-14 |
drosophila_melanogaster |
| Hongwei Zhang, Jie Deng, Xiaohui Wang, Chunhong Chen, Shuhua Chen, Lifang Dai, Fang Fan. Clinical phenotypic and genotypic characterization of Frontiers in neurology. vol 14. 2023-03-20. PMID:36937533. |
clinical phenotypic and genotypic characterization of as one of the assembly factors of the gator1 protein complex in the mechanism of rapamycin pathway, nprl3 plays an important role in the pathogenesis of epilepsy. |
2023-03-20 |
2023-08-14 |
Not clear |
| Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepag. Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies. Orphanet journal of rare diseases. vol 18. issue 1. 2023-01-13. PMID:36639812. |
mutations in the gator1 complex genes, depdc5 and nprl3, play a major role in the development of lesional and non-lesional focal epilepsy through increased mtorc1 signalling. |
2023-01-13 |
2023-08-14 |
Not clear |
| Philip H Iffland, Mariah E Everett, Katherine M Cobb-Pitstick, Lauren E Bowser, Allan E Barnes, Janice K Babus, Andrea J Romanowski, Marianna Baybis, Soad Elziny, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J Carson, Peter B Crin. NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold. Brain : a journal of neurology. 2022-02-09. PMID:35136953. |
mutations in nitrogen permease regulator-like 3 (nprl3), a component of the gator1 complex within the mechanistic target of rapamycin (mtor) pathway, are associated with epilepsy and malformations of cortical development. |
2022-02-09 |
2023-08-13 |
mouse |
| Philip H Iffland, Mariah E Everett, Katherine M Cobb-Pitstick, Lauren E Bowser, Allan E Barnes, Janice K Babus, Andrea J Romanowski, Marianna Baybis, Soad Elziny, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J Carson, Peter B Crin. NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold. Brain : a journal of neurology. 2022-02-09. PMID:35136953. |
the nprl3 pedigree exhibited an epilepsy penetrance of 28% and heterogeneous clinical phenotypes with a range of epilepsy semiologies i.e., focal or generalized onset, brain imaging abnormalities i.e., polymicrogyria, focal cortical dysplasia, or normal imaging, and eeg findings, e.g., focal, multi-focal, or generalized spikes, focal or generalized slowing. |
2022-02-09 |
2023-08-13 |
mouse |
| Saeko Ishida, Di Zhao, Yuta Sawada, Yuichi Hiraoka, Tomoji Mashimo, Kohichi Tanak. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy. Human molecular genetics. 2021-12-29. PMID:34965576. |
the most frequent genetic cause of focal epilepsies is variations in the gap activity toward rags 1 complex genes dep domain containing 5 (depdc5), nitrogen permease regulator 2-like protein (nprl2) and nitrogen permease regulator 3-like protein (nprl3). |
2021-12-29 |
2023-08-13 |
mouse |
| Youzhi Li, Xu Zhao, Shanshan Wang, Ke Xu, Xin Zhao, Shanshan Huang, Suiqiang Zh. A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci. Frontiers in genetics. vol 12. 2021-12-07. PMID:34868250. |
a novel loss-of-function mutation in the nprl3 gene identified in chinese familial focal epilepsy with variable foci. |
2021-12-07 |
2023-08-13 |
Not clear |