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Paroxysmal tonic upgaze: a heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
Quade, A., Thiel, A., Kurth, I., Holtgrewe, M. ORCID logoORCID: https://orcid.org/0000-0002-3051-1763, Elbracht, M., Beule, D. ORCID logoORCID: https://orcid.org/0000-0002-3284-0632, Eggermann, K., Scholl, U.I. and Häusler, M.
European Journal of Paediatric Neurology 25 : 181-186. March 2020

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).
Usluer, S., Kayserili, M.A., Eken, A.G., Yiş, U., Leu, C., Altmüller, J. ORCID logoORCID: https://orcid.org/0000-0003-4372-1521, Thiele, H., Nürnberg, P., Sander, T. and Çağlayan, S.H.
European Journal of Paediatric Neurology 21 (5): 773-782. September 2017

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