De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
| Title: | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood |
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| Authors: | Heinzen EL; Swoboda KJ; Hitomi Y; Gurrieri F; Nicole S; de Vries B; Tiziano FD; Fontaine B; Walley NM; Heavin S; Panagiotakaki E; European Alternating Hemiplegia of Childhood Genetics Consortium; Neri G; Koelewijn S; Kamphorst J; Geilenkirchen M; Pelzer N; Laan L; Haan J; Ferrari M; van den Maagdenberg A; Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium; Zucca C; Bassi MT; Franchini F; Vavassori R; Giannotta M; Gobbi G; Granata T; Nardocci N; De Grandis E; Veneselli E; Stagnaro M; Vigevano F; European Network for Research on Alternating Hemiplegia for Small; Medium sized Enterpriese Consortium; Oechsler C; Arzimanoglou A; Ninan M; Neville B; Ebinger F; Fons C; Campistol J; Kemlink D; Nevsimalova S; Peeters Scholte C; Casaer P; Sange G; Spiel G; Martinelli Boneschi F; Schyns T; Crawley F; Poncelin D; Fiori S; Abiusi E; Di Pietro L; Sweney MT; Newcomb TM; Viollet L; Huff C; Jorde LB; Reyna SP; Murphy KJ; Shianna KV; Gumbs CE; Little L; Silver K; Ptáček LJ; Ferrari MD; Bye AM; Herkes GK; Whitelaw CM; Webb D; Lynch BJ; Uldall P; King MD; Scheffer IE; van den Maagdenberg AM; Sisodiya SM; Mikati MA; Goldstein D.B.; CASARI , GIORGIO NEVIO |
| Contributors: | Heinzen, El; Swoboda, Kj; Hitomi, Y; Gurrieri, F; Nicole, S; de Vries, B; Tiziano, Fd; Fontaine, B; Walley, Nm; Heavin, S; Panagiotakaki, E; European Alternating Hemiplegia of Childhood Genetics, Consortium; Neri, G; Koelewijn, S; Kamphorst, J; Geilenkirchen, M; Pelzer, N; Laan, L; Haan, J; Ferrari, M; van den Maagdenberg, A; Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium; Zucca, C; Bassi, Mt; Franchini, F; Vavassori, R; Giannotta, M; Gobbi, G; Granata, T; Nardocci, N; De Grandis, E; Veneselli, E; Stagnaro, M; Vigevano, F; European Network for Research on Alternating Hemiplegia for, Small; Medium sized Enterpriese, Consortium; Oechsler, C; Arzimanoglou, A; Ninan, M; Neville, B; Ebinger, F; Fons, C; Campistol, J; Kemlink, D; Nevsimalova, S; Peeters Scholte, C; Casaer, P; Casari, GIORGIO NEVIO; Sange, G; Spiel, G; Martinelli Boneschi, F; Schyns, T; Crawley, F; Poncelin, D; Fiori, S; Abiusi, E; Di Pietro, L; Sweney, Mt; Newcomb, Tm; Viollet, L; Huff, C; Jorde, Lb; Reyna, Sp; Murphy, Kj; Shianna, Kv; Gumbs, Ce; Little, L; Silver, K; Ptáček, Lj; Ferrari, Md; Bye, Am; Herkes, Gk; Whitelaw, Cm; Webb, D; Lynch, Bj; Uldall, P; King, Md; Scheffer, Ie; van den Maagdenberg, Am; Sisodiya, Sm; Mikati, Ma; Goldstein, D. B. |
| Publication Year: | 2012 |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/22842232; info:eu-repo/semantics/altIdentifier/wos/WOS:000308491200015; volume:44; firstpage:1030-4; journal:NATURE GENETICS; https://hdl.handle.net/20.500.11768/12933 |
| DOI: | 10.1038/ng.2358 |
| Availability: | https://hdl.handle.net/20.500.11768/12933; https://doi.org/10.1038/ng.2358 |
| Accession Number: | edsbas.DCAA784B |
| Database: | BASE |