The spectrum of intermediate SCN8A-related epilepsy

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

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

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

Autor: Laurence Lion-François, Vassili Valayannopoulos, Gajja S. Salomons, Yvonne M.C. Hendriks, Ernst Christensen, Thierry Billette de Villemeur, Floris C. Hofstede, Warsha A. Kanhai, Jessica A. Scott-Schwoerer, Joseph Ndika, Monique Williams, Helen Mundy, Miquel Raspall-Chaure, Vickie L. Hannig, Saadet Mercimek-Mahmutoglu, Allan M. Lund, Gaele Pitelet, David Cheillan, Katalin Szakszon, Nathalie Dorison

Publikováno v: Mahmutoglu, S, Ndika, J D T, Kanhai, W, de Villemeur, T B, Cheillan, D, Christensen, E, Dorison, N, Hannig, V, Hendriks, Y M C, Hofstede, F C, Lion-Francois, L, Lund, A M, Mundy, H, Pitelet, G, Raspall-Chaure, M, Scott-Schwoerer, J A, Szakszon, K, Valayannopoulos, V, Williams, M & Salomons, G S 2014, ' Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene ', Human Mutation, vol. 35, no. 4, pp. 462-469 . https://doi.org/10.1002/humu.22511
Human Mutation
Human Mutation, Wiley, 2014, 35 (4), pp.462-9. ⟨10.1002/humu.22511⟩
Human Mutation, 35(4), 462-469. Wiley-Liss Inc.

International audience; Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoaceta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79cae2fa620f08616c79b9cd8e5e56fb
https://research.vumc.nl/en/publications/63cbe33c-6b3f-4b13-9b21-489343ba1b7c

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Autor: Jozef Van Driessche, James R. Lupski, Stephanie M Frenkel, Pawel Stankiewicz, Luis M. Franco, Brett H. Graham, Sau Wai Cheung, Joris Vermeesch, Thomy de Ravel

Publikováno v: European journal of human genetics : EJHG. 18(2)

Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsuff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5847de196712447d4874e8a69522099a
https://pubmed.ncbi.nlm.nih.gov/19844260

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review

Autor: Braissant, O., Henry, H.

Publikováno v: Journal of Inherited Metabolic Disease, vol. 31, no. 2, pp. 230-239

Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy. While the mammalian central nervous s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1900::f911dfd182fb8b72e3f3786f5a236cda
https://serval.unil.ch/notice/serval:BIB_F13D66EBFC62