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Paroxysmal tonic upgaze: a heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
Quade, A., Thiel, A., Kurth, I., Holtgrewe, M., Elbracht, M., Beule, D., 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., Thiele, H., Nürnberg, P., Sander, T. and Çağlayan, S.H.
European Journal of Paediatric Neurology 21 (5): 773-782. September 2017