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