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A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

Autor: Imbrici, P., Gualandi, F., D'Adamo, M.C., Masieri, M. Taddei, Cudia, P., De Grandis, D., Mannucci, R., Nicoletti, I., Tucker, S.J., Ferlini, A., Pessia, M.

Publikováno v: In Neuroscience 2 December 2008 157(3):577-587

Inducible pluripotent stem (iPS) cell-derived human astrocytes as a new disease model to shed light into the molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Autor: Lanciotti, A, Brignone, Ms, Veroni, C, Aiello, C, Sforna, L, Petrucci, Tc, Bertini, E, Pessia, M, Ambrosini, E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3982::b8cb7725d3b11bbf6c4ef19bda6128f2
http://hdl.handle.net/11391/1464052

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Autor: Hasan S., Bove C., Silvestri G., Mantuano E., Modoni A., Veneziano L., Hunter T., Hunter G., Pessia M., D'Adamo M.C.

Publikováno v: Scientific reports (Nature Publishing Group) 7 (2017). doi:10.1038/s41598-017-03041-z.
info:cnr-pdr/source/autori:Hasan S.; Bove C.; Silvestri G.; Mantuano E.; Modoni A.; Veneziano L.; Hunter T.; Hunter G.; Pessia M. ; D'Adamo M.C./titolo:A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia/doi:10.1038%2Fs41598-017-03041-z./rivista:Scientific reports (Nature Publishing Group)/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:7

Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::69dbffd43a901dfb4781fdea6e8e3143
http://www.cnr.it/prodotto/i/369902

Genetic investigation of children with ataxia using exome sequencing

Autor: FAWCETT K A, 17., A H, Nemeth, Schnekenberg, Rp, E M, Perkins, Miller, Jw, Davies, W, D'Adamo, Maria Cristina, Pessia, M, Sims, D, Gillard, E, Hudspith, K, Skehel, P, Williams, J, O'Regan, M, Jayawant, S, Jefferson, R, Hughes, S, Steinlin, M, Lustenberger, A, Ragoussis, J, Jackson, M, S J, Tucker

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3982::2211b97837d1b51d44bab6fbc6b49c30
http://hdl.handle.net/11391/1464034