Cerebral hypomyelination associated with biallelic variants of FIG4
Guy Lenk, IR Berry, CA Stutterd, M Blyth, L Green, G Vadlamani, D Warren, I Craven, M Fanjul-Fernandez, V Rodriguez-Casero, PJ Lockhart, A Vanderver, C Simons, S Gibb, S Sadedin, SM White, J Christodoulou, O Skibina, J Ruddle, TY Tan, RJ Leventer, JH Livingston, Miriam Meisler
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
GL Carvill, KL Engel, A Ramamurthy, JN Cochran, J Roovers, H Stamberger, N Lim, AL Schneider, G Hollingsworth, DH Holder, BM Regan, J Lawlor, L Lagae, B Ceulemans, EM Bebin, J Nguyen, P Striano, F Zara, I Helbig, RS Møller, S von Spiczak, H Muhle, H Caglayan, K Sterbova, D Craiu, D Hoffman, AE Lehesjoki, K Selmer, C Depienne, J Lemke, C Marini, R Guerrini, B Neubauer, T Talvik, E Leguern, P De Jonghe, S Weckhuysen, GS Barsh, Miriam Meisler, SF Berkovic, IE Scheffer, RM Myers, GM Cooper, HC Mefford
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
SF Berkovic, B Grinton, T Dixon-Salazar, BL Laughlin, L Lubbers, J Milder, DB Goldstein, EL Heinzen, L Bier, ME Ernst, NC Lippa, . Mulhern, TM Afgani, V Aggarwal, N Stong, DH Lowenstein, S Cornes, K Johnson, R Stewart, V Whittemore, K Angione, S Demarest, M Gibbons, C Joshi, K Park, CW Bazil, H Choi, J Bluvstein, O Devinsky, P Dugan, P Tolete, E Brimble, C Campbell, C Chambers, H Goodkin, L Jansen, . Cilio, A Numis, N Singhal, J Sullivan, M Ciliberto, N Delanty, N Delanty, D Dlugos, H Dubbs, I Helbig, E Marsh, A Martinez, W Gallentine, MA Makati, J Millichap, Y Moskovich, J Millichap, A Poduri, B Sheidley, L Smith, A Taylor, B Porter, TT Sands, JJ Riviello, IE Scheffer, AS Allen, R Hamid, KL Helbig, S Tang, Miriam Meisler, S Petrovski, J Pfotenhauer
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