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Supplementary_Table_21-06-2019_rev_1 – Supplemental material for Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

Autor: Hoelz, Hannes, Herdl, Christian, Gerstl, Lucia, Tacke, Moritz, Vill, Katharina, Stuelpnagel, Celina Von, Rost, Imma, Hoertnagel, Konstanze, Abicht, Angela, Hollizeck, Sebastian, Larsen, Line H. G., Borggraefe, Ingo

Supplemental material, Supplementary_Table_21-06-2019_rev_1 for Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center by Hannes Hoelz, Christian Herdl, Lucia Gerstl, Moritz Tacke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6c3c3b8866d25339fb7a9fd406b1072

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Autor: Gardella, Elena, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor, Weber, Yvonne G.

Publikováno v: Gardella, E, Becker, F, Møller, R S, Schubert, J, Lemke, J R, Larsen, L H G, Eiberg, H, Nothnagel, M, Thiele, H, Altmüller, J, Syrbe, S, Merkenschlager, A, Bast, T, Steinhoff, B, Nürnberg, P, Mang, Y, Bakke Møller, L, Gellert, P, Heron, S, Dibbens, L, Weckhuysen, S, Dahl, H A, Biskup, S, Tommerup, N, Hjalgrim, H, Lerche, H, Beniczky, S & Weber, Y G 2016, ' Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation ', Annals of Neurology, vol. 79, no. 3, pp. 428-436 . https://doi.org/10.1002/ana.24580
Gardella, E, Becker, F, Møller, R S, Schubert, J, Lemke, J R, Larsen, L H, Eiberg, H, Nothnagel, M, Thiele, H, Altmüller, J, Syrbe, S, Merkenschlager, A, Bast, T, Steinhoff, B J, Nürnberg, P, Mang, Y, Bakke Møller, L, Gellert, P, Heron, S, Dibbens, L, Weckhuysen, S, Dahl, H A, Biskup, S, Tommerup, N, Hjalgrim, H, Lerche, H, Beniczky, S & Weber, Y G 2016, ' Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation ', Annals of Neurology, vol. 79, no. 3, pp. 428-436 . https://doi.org/10.1002/ana.24580
Annals of neurology

OBJECTIVE: Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination - known as infantile convulsions and paroxysmal choreoathetosis (ICCA) - are related autosomal dominant diseases. PRRT2 (proline-rich

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a804cdc11f63617ed966c0b3582ba2a0
https://portal.findresearcher.sdu.dk/da/publications/0b5b1464-2a7f-4fee-be06-0a386c024c2b