| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Maria Bertuzzi, Dave Tang, Raffaella Calligaris, Christina Vlachouli, Sara Finaurini, Remo Sanges, Stefano Goldwurm, Mauro Catalan, Lucia Antonutti, Paolo Manganotti, Gilberto Pizzolato, Gianni Pezzoli, Francesca Persichetti, Piero Carninci, Stefano Gustincic. A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner. Human mutation. vol 41. issue 4. 2021-07-22. PMID:31898848. |
nprl3 is a component of the gap activity toward rags 1 protein complex that inhibits mammalian target of rapamycin complex 1 (mtorc1) activity and it is found mutated in familial focal cortical dysplasia and familial focal epilepsy. |
2021-07-22 |
2023-08-13 |
human |
| Kenneth A Myers, Mark F Bennett, Michael S Hildebrand, Matthew J Coleman, Geyu Zhou, Georgie Hollingsworth, Anita Cairns, Kate Riney, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffe. Transcriptome analysis of a ring chromosome 20 patient cohort. Epilepsia. vol 62. issue 1. 2021-04-19. PMID:33207017. |
these included one epilepsy gene, nprl3, but this finding was not confirmed on reverse transcription droplet digital polymerase chain reaction analysis. |
2021-04-19 |
2023-08-13 |
Not clear |
| Ruby E Dawson, Alvaro F Nieto Guil, Louise J Robertson, Sandra G Piltz, James N Hughes, Paul Q Thoma. Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy. Neurobiology of disease. vol 134. 2021-01-13. PMID:31639411. |
mutations in the gap activity toward rags 1 (gator1) complex genes (depdc5, nprl2 and nprl3) have been associated with focal epilepsy and focal cortical dysplasia (fcd). |
2021-01-13 |
2023-08-13 |
mouse |
| Marissa Vawter-Lee, David N Franz, Christine E Fuller, Hansel M Greine. Clinical Letter: A case report of targeted therapy with sirolimus for NPRL3 epilepsy. Seizure. vol 73. 2020-05-20. PMID:31733420. |
clinical letter: a case report of targeted therapy with sirolimus for nprl3 epilepsy. |
2020-05-20 |
2023-08-13 |
Not clear |
| Philip H Iffland, Vincent Carson, Angelique Bordey, Peter B Crin. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia. vol 60. issue 11. 2020-04-15. PMID:31625153. |
family pedigrees carrying mutations in either depdc5 or nprl3 share clinical phenotypes of epilepsy and mcd, as well as intellectual and neuropsychiatric disabilities. |
2020-04-15 |
2023-08-13 |
mouse |
| Philip H Iffland, Vincent Carson, Angelique Bordey, Peter B Crin. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia. vol 60. issue 11. 2020-04-15. PMID:31625153. |
interestingly, some individuals with seizures associated with depdc5, nprl3, or nprl2 variants exhibit normal brain imaging suggesting either occult mcd or a role for these genes in non-lesional neocortical epilepsy. |
2020-04-15 |
2023-08-13 |
mouse |
| Philip H Iffland, Vincent Carson, Angelique Bordey, Peter B Crin. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia. vol 60. issue 11. 2020-04-15. PMID:31625153. |
the role of the gator1 proteins in regulating mtor signaling suggest plausible options for mtor inhibition in the treatment of epilepsy associated with mutations in depdc5, nprl3, or nprl2. |
2020-04-15 |
2023-08-13 |
mouse |
| Christina Canavati, Karl Martin Klein, Zaid Afawi, Manuela Pendziwiat, Amal Abu Rayyan, Lara Kamal, Fouad Zahdeh, Ikram Qaysia, Ingo Helbig, Moien Kanaa. Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. Epilepsia. vol 60. issue 6. 2020-04-10. PMID:31111464. |
inclusion of hemimegalencephaly into the phenotypic spectrum of nprl3 pathogenic variants in familial focal epilepsy with variable foci. |
2020-04-10 |
2023-08-13 |
Not clear |
| Christina Canavati, Karl Martin Klein, Zaid Afawi, Manuela Pendziwiat, Amal Abu Rayyan, Lara Kamal, Fouad Zahdeh, Ikram Qaysia, Ingo Helbig, Moien Kanaa. Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. Epilepsia. vol 60. issue 6. 2020-04-10. PMID:31111464. |
furthermore, we identified a truncating variant in the pdcd10 gene in addition to the nprl3 variant in a patient with focal epilepsy from family i. |
2020-04-10 |
2023-08-13 |
Not clear |
| Philip H Iffland, Marianna Baybis, Allan E Barnes, Richard J Leventer, Paul J Lockhart, Peter B Crin. DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons. Neurobiology of disease. vol 114. 2019-09-06. PMID:29481864. |
neuronal size was determined in human specimens harboring depdc5 or nprl3 mutations resected for epilepsy treatment. |
2019-09-06 |
2023-08-13 |
mouse |
| Saeko Ishid. [DEPDC5, a new key to understand various epilepsies]. Nihon yakurigaku zasshi. Folia pharmacologica Japonica. vol 152. issue 6. 2019-05-06. PMID:30531098. |
depdc5 forms a complex, named gator1, together with other focal epilepsy related proteins nprl2 and nprl3. |
2019-05-06 |
2023-08-13 |
Not clear |
| Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d'Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R Lemke, Rikke S Møller, Stéphanie Baula. The landscape of epilepsy-related GATOR1 variants. Genetics in medicine : official journal of the American College of Medical Genetics. vol 21. issue 2. 2019-04-18. PMID:30093711. |
to define the phenotypic and mutational spectrum of epilepsies related to depdc5, nprl2 and nprl3 genes encoding the gator1 complex, a negative regulator of the mtorc1 pathway methods: we analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in gator1-encoding genes and proposed new guidelines for clinical interpretation of gator1 variants. |
2019-04-18 |
2023-08-13 |
Not clear |
| Weixi Xiong, Lin Tang, Lu Lu, Le Zhang, Yingfeng Xiao, Dong Zho. Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy. Acta neurologica Scandinavica. vol 139. issue 3. 2019-03-18. PMID:30427063. |
gator1 (gap activity toward rags 1) is composed of three different subunits, depdc5 (dep domain-containing protein 5), nprl2 (nitrogen permease regulator-like 2) and nprl3 (nitrogen permease regulator-like 3), and variants in these three genes have mostly been reported in familial focal epilepsy. |
2019-03-18 |
2023-08-13 |
Not clear |
| Weixi Xiong, Lin Tang, Lu Lu, Le Zhang, Yingfeng Xiao, Dong Zho. Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy. Acta neurologica Scandinavica. vol 139. issue 3. 2019-03-18. PMID:30427063. |
in this study, we aimed to identify the frequency of variants in depdc5, nprl2 and nprl3 in patients with sporadic drug-resistant focal epilepsy. |
2019-03-18 |
2023-08-13 |
Not clear |
| Sara Baldassari, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Tommaso Pippucc. GATOR1 complex: the common genetic actor in focal epilepsies. Journal of medical genetics. vol 53. issue 8. 2017-10-30. PMID:27208208. |
mutations in genes encoding components of gap activity toward rags 1 (gator1) (depdc5, nprl2 and nprl3), a complex involved in the inhibition of the mtor complex 1 (mtorc1), have been recently implicated in the pathogenesis of a wide spectrum of focal epilepsies (fes), both lesional and non-lesional. |
2017-10-30 |
2023-08-13 |
Not clear |
| S Baula. mTOR signaling pathway genes in focal epilepsies. Progress in brain research. vol 226. 2017-07-06. PMID:27323939. |
this chapter reviews the genetics and neurobiology of depdc5, nprl2, and nprl3, and summarizes the clinical and molecular spectrum of gator1-related epilepsies. |
2017-07-06 |
2023-08-13 |
Not clear |
| Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K Steinlei. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26786403. |
nocturnal frontal lobe epilepsy caused by a mutation in the gator1 complex gene nprl3. |
2016-07-28 |
2023-08-13 |
Not clear |
| Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K Steinlei. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26786403. |
mutations in nprl3, one of three genes that encode proteins of the mtorc1-regulating gator1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. |
2016-07-28 |
2023-08-13 |
Not clear |
| Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K Steinlei. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26786403. |
we have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (nm_001077350.2; c.1522delg; p.e508rfs*46) within exon 13 of nprl3. |
2016-07-28 |
2023-08-13 |
Not clear |
| Georg-Christoph Korenke, Marlene Eggert, Holger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K Steinlei. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. vol 57. issue 3. 2016-07-28. PMID:26786403. |
the absence of apparent structural brain abnormalities suggests that mutations in nprl3 are not necessarily associated with focal cortical dysplasia but might be able to cause epilepsy by different, yet unknown pathomechanisms. |
2016-07-28 |
2023-08-13 |
Not clear |