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2000 2
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2021 4
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The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093711 Free PMC article.
PURPOSE: 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) wit …
PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex …
Nutrient regulation of mTORC1 at a glance.
Condon KJ, Sabatini DM. Condon KJ, et al. J Cell Sci. 2019 Nov 13;132(21):jcs222570. doi: 10.1242/jcs.222570. J Cell Sci. 2019. PMID: 31722960 Free PMC article. Review.
Hyperactivity of the mTOR pathway is associated with numerous human diseases, including diabetes, cancer and epilepsy. Pharmacological inhibition of the mTOR pathway can extend lifespan in a variety of model organisms. ...
Hyperactivity of the mTOR pathway is associated with numerous human diseases, including diabetes, cancer and epilepsy. Pharmacologica …
Epilepsy in the Elderly: Treatment and Consideration of Comorbid Diseases.
Lee SK. Lee SK. J Epilepsy Res. 2019 Jun 30;9(1):27-35. doi: 10.14581/jer.19003. eCollection 2019 Jun. J Epilepsy Res. 2019. PMID: 31482054 Free PMC article. Review.
Epilepsy is the third most common neurological disorder affecting older adults after stroke and dementia, and the incidence of epilepsy is increasing rapidly in this population. A further increase in the incidence and prevalence of epilepsy is expected in agi
Epilepsy is the third most common neurological disorder affecting older adults after stroke and dementia, and the incidence of epi
Cannabinoids in the Treatment of Epilepsy: Hard Evidence at Last?
Perucca E. Perucca E. J Epilepsy Res. 2017 Dec 31;7(2):61-76. doi: 10.14581/jer.17012. eCollection 2017 Dec. J Epilepsy Res. 2017. PMID: 29344464 Free PMC article. Review.
The interest in cannabis-based products for the treatment of refractory epilepsy has skyrocketed in recent years. Marijuana and other cannabis products with high content in delta(9) - tetrahydrocannabinol (THC), utilized primarily for recreational purposes, are generally u …
The interest in cannabis-based products for the treatment of refractory epilepsy has skyrocketed in recent years. Marijuana and other …
The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.
Lee YJ, Hwang SK, Kwon S. Lee YJ, et al. J Epilepsy Res. 2017 Jun 30;7(1):1-6. doi: 10.14581/jer.17001. eCollection 2017 Jun. J Epilepsy Res. 2017. PMID: 28775948 Free PMC article. Review.
Benign epilepsy with centro-temporal spikes (BECTS) is the most common type of focal epilepsy in children; it is age-dependent and presumably genetic. ...Furthermore, based on neurobiological studies, a complex interplay between the processes of brain maturation and …
Benign epilepsy with centro-temporal spikes (BECTS) is the most common type of focal epilepsy in children; it is age-dependent …
Burden and Its Predictors among Caregivers of Patient with Epilepsy.
Pokharel R, Poudel P, Lama S, Thapa K, Sigdel R, Shrestha E. Pokharel R, et al. J Epilepsy Res. 2020 Jun 30;10(1):24-30. doi: 10.14581/jer.20005. eCollection 2020 Jun. J Epilepsy Res. 2020. PMID: 32983952 Free PMC article.
BACKGROUND AND PURPOSE: Epilepsy is a chronic unpredictable debilitating condition. Epilepsy has great impacts not only on patients with epilepsies but also the persons around them. ...In view of the dearth of literature or studies focused on caregivers of children …
BACKGROUND AND PURPOSE: Epilepsy is a chronic unpredictable debilitating condition. Epilepsy has great impacts not only on pat …
Review: The international consensus classification of Focal Cortical Dysplasia - a critical update 2018.
Najm IM, Sarnat HB, Blümcke I. Najm IM, et al. Neuropathol Appl Neurobiol. 2018 Feb;44(1):18-31. doi: 10.1111/nan.12462. Neuropathol Appl Neurobiol. 2018. PMID: 29359399 Review.
Since that time, this FCD classification has been widely used in clinical diagnosis and research (more than 740 papers cited in Pubmed between 1/1/2012 and 7/1/2017). ...Associated FCD III subtypes also became rare in published literature. Despite temporal lobe epilepsy
Since that time, this FCD classification has been widely used in clinical diagnosis and research (more than 740 papers cited in Pubme …
Recent Aspects of Pediatric Epilepsy Surgery.
Kwon HE, Kim HD. Kwon HE, et al. J Epilepsy Res. 2019 Dec 31;9(2):87-92. doi: 10.14581/jer.19010. eCollection 2019 Dec. J Epilepsy Res. 2019. PMID: 32509543 Free PMC article. Review.
Surgery has been and is now a well-established treatment indicated for adults and children with drug-resistant epilepsy (DRE). The surgical landscape for children with DRE appears to be expanding, and surgical cases of pediatric epilepsy have increased significantly …
Surgery has been and is now a well-established treatment indicated for adults and children with drug-resistant epilepsy (DRE). The su …
Seizures and Epilepsy in Times of Corona Virus Disease 2019 Pandemic.
Parihar J, Tripathi M, Dhamija RK. Parihar J, et al. J Epilepsy Res. 2020 Jun 30;10(1):3-7. doi: 10.14581/jer.20002. eCollection 2020 Jun. J Epilepsy Res. 2020. PMID: 32983949 Free PMC article. Review.
While several cases of seizures have been reported in patients with coronavirus disease 2019 (COVID-19) patients, there is no specific data to suggest an association of COVID-19 with epilepsy. Epilepsy patients on immunosuppressive medications may have a higher risk …
While several cases of seizures have been reported in patients with coronavirus disease 2019 (COVID-19) patients, there is no specific data …
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