Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

Autor: McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E.V., Papandreou, A., Ngoh, A., Ackermann, S., Ambegaonkar, G., Appleton, R., Desurkar, A., Eltze, C., Kneen, R., Kumar, A.V., Lascelles, K., Montgomery, T., Ramesh, V., Samanta, R., Scott, R.H., Tan, J., Whitehouse, W., Poduri, A., Scheffer, I.E., Chong, W.K., Cross, J.H., Topf, Maya, Petrou, S., Kurian, M.A.

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy.\ud \ud Methods: We identified a cohort of 31 patients with epilepsy of infancy with migr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::af417019a3bf158c3cb5e7c3cd2a0ea7
https://eprints.bbk.ac.uk/id/eprint/20687/1/20687.pdf

Delineation of the movement disorders associated with FOXG1 mutations

Autor: Papandreou, A., Schneider, R. B., Augustine, E. F., Ng, J., Mankad, K., Meyer, E., Mctague, A., Ngoh, A., Hemingway, C., Robinson, Raoul, Varadkar, S. M., Kinali, M., Salpietro, V., O'Driscoll, M. C., Nigel Basheer, S., Webster, R. I., Mohammad, S. S., Pula, S., Mcgowan, M., Trump, N., Jenkins, L., Elmslie, F., Scott, R. H., Hurst, J. A., Perez-Duenas, B., Paciorkowski, A. R., Kurian, M. A.

Publikováno v: Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Objective: The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. Methods: We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4da7c85caeca6a62850a66fb18f6feef
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9710

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

Autor: Trump, N., Cullup, T., Verheij, J.B.G.M., Manzur, A., Muntoni, F., Abbs, S., Jungbluth, H.

Publikováno v: In Neuromuscular Disorders May 2012 22(5):384-388

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

P3.38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene

Autor: Trump, N., Cullup, T., Muntoni, F., Verheij, J., Jungbluth, H.

Publikováno v: In Neuromuscular Disorders October 2011 21(9-10):693-693