The phenotypic spectrum of SCN8A encephalopathy

Autor: Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, Mcmahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, De Kovel, Carolien G. F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Zara, Federico, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.

Publikováno v: Neurology
Larsen, J, Carvill, G L, Gardella, E, Kluger, G, Schmiedel, G, Barisic, N, Depienne, C, Brilstra, E, Mang, Y, Nielsen, J E K, Kirkpatrick, M, Goudie, D, Goldman, R, Jähn, J A, Jepsen, B, Gill, D, Döcker, M, Biskup, S, McMahon, J M, Koeleman, B, Harris, M, Braun, K, de Kovel, C G F, Marini, C, Specchio, N, Djémié, T, Weckhuysen, S, Tommerup, N, Troncoso, M, Troncoso, L, Bevot, A, Wolff, M, Hjalgrim, H, Guerrini, R, Scheffer, I E, Mefford, H C, Møller, R S & EuroEPINOMICS RES Consortium 2015, ' The phenotypic spectrum of SCN8A encephalopathy ', Neurology, vol. 84, no. 5, pp. 480-489 . https://doi.org/10.1212/WNL.0000000000001211

OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.METHODS:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ff62ae94d054b70e7770469a440548
https://doi.org/10.1212/wnl.0000000000001211

Associations between membranes and microtubules during mitosis and cytokinesis in caulonema tip cells of the moss Funaria hygrometrica.

Autor: Schmiedel, Gudrun, Reiss, H., Schnepf, E.

Publikováno v: Protoplasma; 1981, Vol. 108 Issue 1/2, p173-190, 18p