De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Autor: 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

Publikováno v: Nature Genetics, 44(9), 1030
Nature genetics

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da

Distinct neurological disorders with ATP1A3 mutations

Autor: Heinzen, El, Arzimanoglou, A, Brashear, A, Clapcote, Sj, Gurrieri, F, Goldstein, Db, Jóhannesson, Sh, Mikati, Ma, Neville, B, Nicole, S, Ozelius, Lj, Poulsen, H, Schyns, T, Sweadner, Kj, van den Maagdenberg, A, Vilsen, B, ATP1A3 Working Group, Ashcroft, Fm, Salem, W, Brockmann, K, Campistol, J, Capuano, A, Carrilho, I, Casaer, P, DE GRANDIS, Elisa, de Vries, B, Di Michele, M, Dion, C, Doummar, D, Einholm, Ap, Fons, C, Franchini, F, Friedrich, T, Freson, K, Gadsby, Dc, Giannotta, M, Goubau, C, Granata, T, Hirose, S, Hitomi, Y, Holm, R, Ikeda, K, Ishii, A, Khodakhah, K, King, Md, Kirshenbaum, Gs, Kockhans, A, Koenderink, Jb, Lesca, G, Lykke Hartmann, K, Maschke, U, Merida, Mr, Müller, R, Neri, G, Nielsen, Hn, Nissen, P, O'Brien, T, Panagiotakaki, E, Parowicz, M, Poncelin, D, Reyna, Sp, Roder, Jc, Rosewich, H, Sasaki, M, Schack, Vr, Schyns, P, Stagnaro, M, Swoboda, Kj, Tiziano, Df, Toustrup Jensen MS, Vilamala, A, Wuchich, J. T.

Publikováno v: Heinzen, E L, Arzimanoglou, A, Brashear, A, Clapcote, S J, Gurrieri, F, Goldstein, D B, Jóhannesson, S H, Mikati, M A, Neville, B, Nicole, S, Ozelius, L J, Poulsen, H, Schyns, T, Sweadner, K J, van den Maagdenberg, A, Vilsen, B & for the ATP1A3 Working Group: 2014, ' Distinct neurological disorders with ATP1A3 mutations ', Lancet Neurology, vol. 13, no. 5, pp. 503-514 . https://doi.org/10.1016/S1474-4422(14)70011-0
The Lancet Neurology, Vol. 13, no. 5, p. 503-514 (2014)
Lancet Neurology, 13, 5, pp. 503-14
Lancet Neurology, 13, 503-14

Item does not contain fulltext Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the alpha3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemipl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e943b4c47204e135054138a32d35896e
https://pure.au.dk/portal/da/publications/distinct-neurological-disorders-with-atp1a3-mutations(3b72ceba-33bb-4c87-9433-3698cb1a535a).html

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Autor: Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D, Arzimanoglou A, ENRAH Consortium

Publikováno v: Brain: A Journal of Neurology; Dec2010, Vol. 133 Issue 12, p3598-3610, 13p

Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

Autor: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, Collaborators: Bassi MT, International AHC Consortium., Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, As, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, Cs, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J, Milh, M, Motte, J, Moutard, Ml, Napuri, S, Nassogne, Mc, Neau, Jp, Nicole, S, Panagiotakaki, E, Passemard, S, Pedespan, Jm, Penniello- Valette MJ, Poncelin, D, Ponsot, G, Poulat, Al, Pouplard, F, Rabilloud, M, Riant, F, Rivier, F, Roelens, P, Roubergue, A, Sanlaville, D, Tardieu, M, Veyrieres, S, de Grandis, E, Fons, C, Sisodiya, S, de Jonghe, P, Goubeau, C, van den Maagdenberg AM, Mikati, M, Scheffer, I, Nevsimalova, S, Kemlink, D, Krepelova, A, Kolnikova, M, Sykora, P, Kaski, J, Hanna, M, Houlden, H, Ulate-Campos, A, Cancho, R, Eiris, J, López-Laso, E, Velázquez, R, Carilho, I, Ozelius, L, Suls, A, Ceulemans, B, Buyse, G, di Michele, M, Ferrari, M, Peeters-Scholte, Cm.

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Orphanet Journal of Rare Diseases, 10
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet journal of rare diseases, 2015, 10, pp.123
Orphanet Journal of Rare Diseases, 2015, 10, pp.123. ⟨10.1186/s13023-015-0335-5⟩
Orphanet Journal of Rare Diseases, Vol. 10, no. 1, p. 123 [1-13] (2015)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Background Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a13263008e5889413050f5bd11d69e
http://hdl.handle.net/2445/112025

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