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Rare copy number variants are an important cause of epileptic encephalopathies Mefford, Heather C.; Yendle, Simone C.; Hsu, Cynthia; Cook, Joseph; Geraghty, Eileen; McMahon, Jacinta M.; Eeg-Olofsson, Orvar; Sadleir, Lynette G.; Gill, Deepak; Ben-Zeev, Bruria; Lerman-Sagie, Tally; Mackay, Mark; Freeman, Jeremy L.; Andermann, Eva; Pelakanos, James T.; Andrews, Ian; Wallace, Geoffrey; Eichler, Evan E.; Berkovic, Samuel F.; Scheffer, Ingrid E. 分享 收藏
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes Neubauer, B. A.; Waldegger, S.; Heinzinger, J.; Hahn, A.; Kurlemann, G.; Fiedler, B.; Eberhard, F.; Muhle, H.; Stephani, U.; Garkisch, S.; Eeg-Olofsson, O.; Ller, U. Mu; Sander, T. 分享 收藏
Linkage and association analysis of CACNG3 in childhood absence epilepsy (vol 15, pg 463, 2007) Everett, Kate; Chioza, Barry; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Goutieres, Francoise; Guerrini, Renzo; Heils, Armin; Kjeldsen, Marianne; Lehesjoki, Anna-Elina; Makoff, Andrew; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Siren, Auli; McKeigue, Paul; Robinson, Robert; Taske, Nichole; Rees, Michele; Gardiner, Mark 分享 收藏
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome) Fertleman, C. R.; Ferrie, C. D.; Aicardi, J.; Bednarek, N. A. F.; Eeg-Olofsson, O.; Elmslie, F. V.; Griesemer, D. A.; Goutieres, F.; Kirkpatrick, M.; Malmros, I. N. O.; Pollitzer, M.; Rossiter, M.; Roulet-Perez, E.; Schubert, R.; Smith, V. V.; Testard, H.; Wong, V.; Stephenson, J. B. P. 分享 收藏
Linkage and association analysis of CACNG3 in childhood absence epilepsy Everett, Kate V.; Chioza, Barry; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Goutieres, Francoise; Guerrini, Renzo; Heils, Armin; Kjeldsen, Marianne; Lehesjoki, Anna-Elina; Makoff, Andrew; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Siren, Auli; McKeigue, Paul; Robinson, Robert; Taske, Nichole; Rees, Michele; Gardiner, Mark 分享 收藏
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The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone Anttonen, AK; Mahjneh, I; Hämäläinen, RH; Lagier-Tourenne, C; Kopra, O; Waris, L; Anttonen, M; Joensuu, T; Kalimo, H; Paetau, A; Tranebjaerg, L; Chaigne, D; Koenig, M; Eeg-Olofsson, O; Udd, B; Somer, M; Somer, H; Lehesjoki, AE 分享 收藏
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Efficacy and tolerability of the new antiepileptic drugs:: Commentary on the recently published practice parameters Panayiotopoulos, CP; Benbadis, SR; Covanis, A; Dulac, O; Duncan, JS; Eeg-Olofsson, O; Ferrie, CD; Grünewald, RA; Trenite, DGAKN; Koutroumanidis, M; Martinovic, Z; Newton, RW; Parker, AP; Salas-Puig, J; Sander, JWAS; Shorvon, S; Watanabe, K; Whitehouse, WP; Youroukos, S 分享 收藏
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Centrotemporal spikes in families with rolandic epilepsy -: Linkage to chromosome 15q14 Neubauer, BA; Fiedler, B; Himmelein, B; Kämpfer, F; Lässker, U; Schwabe, G; Spanier, I; Tams, D; Bretscher, C; Moldenhauer, K; Kurlemann, G; Weise, S; Tedroff, K; Eeg-Olofsson, O; Wadelius, C; Stephani, U 分享 收藏
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24 Phillips, HA; Scheffer, IE; Crossland, KM; Bhatia, KP; Fish, DR; Marsden, CD; Howell, SJL; Stephenson, JBP; Tolmie, J; Plazzi, G; Eeg-Olofsson, O; Singh, R; Lopes-Cendes, I; Andermann, E; Andermann, F; Berkovic, SF; Mulley, JC 分享 收藏
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