Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alejandra C Encinas"'
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0238121 (2020)
Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional effects of particular variants wit
Externí odkaz:
https://doaj.org/article/d446e92b8d5540128825178e307e1f2c
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort
Publikováno v:
Epilepsia. 60:1711-1720
Objective To characterize a cohort of patients with SCN8A-related epilepsy and to perform analyses to identify correlations involving the acquisition of neurodevelopmental skills. Methods We analyzed patient data (n = 91) submitted to an online regis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cad41ce90ea226b79ea447168796894
https://doi.org/10.1111/epi.16288
https://doi.org/10.1111/epi.16288
Autor:
J. P. Johnson, Michael F. Hammer, Joseph C. Watkins, Iris Arenas Longoria, Alejandra C. Encinas
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 8, p e0238121 (2020)
PLoS ONE, Vol 15, Iss 8, p e0238121 (2020)
Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional effects of particular variants wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eb62cf1c960f3a210e237c6b39da116
https://pubmed.ncbi.nlm.nih.gov/32845893
https://pubmed.ncbi.nlm.nih.gov/32845893
Autor:
Marialuisa Valente, Christina Fenger, Lucio Giordano, Federico Zara, Guido Rubboli, Ida Charlotte Bay Lund, Deb K. Pal, Christian Korff, Salvatore Buono, Renzo Guerrini, Sanjay M. Sisodiya, Alice Bonuccelli, Alessandro Orsini, Tobias Brünger, Sarah von Spiczak, Maria J Miranda, Michael B. Petersen, Peter Procopis, Michael F. Hammer, Ingo Helbig, Katrine M Johannesen, Tomasz Mazurczak, Pierangelo Veggiotti, Alejandra C. Encinas, Dennis Lal, Laura Hernandez-Hernandez, Silvia Masnada, Costanza Varesio, Margherita Mancardi, Antonietta Coppola, Tarja Linnankivi, Patrizia Accorsi, Thea Giacomini, Karine Lascelles, Sarah Burki, Anna-Elina Lehesjoki, Rikke S. Møller, Dorota Hoffman-Zacharska, Cristina Cereda, Melissa Rumple, Elena Gardella, Susanne Blichfeldt, Pasquale Striano, S. Krithika, Marilena Vecchi
Publikováno v:
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Objective: Pathogenic variants in SCN 8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS ) to epileptic encephalopathies with variable severity. Furthermore, a few patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83a64bd8cdd1d1626fc9ab3fb373950
http://hdl.handle.net/10138/312952
http://hdl.handle.net/10138/312952
Publikováno v:
Pediatric Neurology Briefs, Vol 31, Iss 3 (2017)
Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14915b1a22f3acbbadc979cbc542fc4a
https://www.pediatricneurologybriefs.com/articles/3801
https://www.pediatricneurologybriefs.com/articles/3801
Autor:
Mohamad Azhar, Alejandra C. Encinas, Harry C. Dietz, Corbie Ball, Hwudaurw Chen, Darren Haskett, Mark A. Estabrook, Jefferson J. Doyle, Connie Gard, Jonathan P. Vande Geest, Urs Utzinger
Publikováno v:
Cell and Tissue Research. 347:267-277
Aortic aneurysm is predominantly found in the ascending aorta in patients with Marfan syndrome (MFS). However, descending aortic disease has emerged as a problem since people are living longer because of improved medical and surgical management of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1e8d16481d8c104db23e0f9313b00e0
https://doi.org/10.1007/s00441-011-1270-y
https://doi.org/10.1007/s00441-011-1270-y