日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

将癫痫遗传学纳入临床实践:360°评估

Oates, Stephanie; Tang, Shan; Rosch, Richard; Lear, Rosalie; Hughes, Elaine F; Williams, Ruth E; Larsen, Line H G; Hao, Qin; Dahl, Hans Atli; Møller, Rikke S; Pal, Deb K

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

GABRB3基因突变:从热性惊厥到癫痫性脑病

Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M; Brilstra, Eva H; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nils; Jacobs, Julia; Swinkels, Marielle; Betzler, Cornelia; Syrbe, Steffen; Nikanorova, Marina; Myers, Candace T; Larsen, Line H G; Vejzovic, Sabina; Pendziwiat, Manuela; von Spiczak, Sarah; Hopkins, Sarah; Dubbs, Holly; Mang, Yuan; Mukhin, Konstantin; Holthausen, Hans; van Gassen, Koen L; Dahl, Hans A; Tommerup, Niels; Mefford, Heather C; Rubboli, Guido; Guerrini, Renzo; Lemke, Johannes R; Lerche, Holger; Muhle, Hiltrud; Maljevic, Snezana

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

局灶性皮质发育不良和癫痫中 MTOR 基因的种系和体细胞突变

Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini,

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

癫痫性脑病和家族性癫痫的基因检测

Møller, Rikke S; Larsen, Line H G; Johannesen, Katrine M; Talvik, Inga; Talvik, Tiina; Vaher, Ulvi; Miranda, Maria J; Farooq, Muhammad; Nielsen, Jens E K; Svendsen, Lene Lavard; Kjelgaard, Ditte B; Linnet, Karen M; Hao, Qin; Uldall, Peter; Frangu, Mimoza; Tommerup, Niels; Baig, Shahid M; Abdullah, Uzma; Born, Alfred P; Gellert, Pia; Nikanorova, Marina; Olofsson, Kern; Jepsen, Birgit; Marjanovic, Dragan; Al-Zehhawi, Lana I K; Peñalva, Sofia J; Krag-Olsen, Bente; Brusgaard, Klaus; Hjalgrim, Helle; Rubboli, Guido; Pal, Deb K; Dahl, Hans A

Mutations in KCNT1 cause a spectrum of focal epilepsies

KCNT1基因突变会导致一系列局灶性癫痫。

Møller, Rikke S; Heron, Sarah E; Larsen, Line H G; Lim, Chiao Xin; Ricos, Michael G; Bayly, Marta A; van Kempen, Marjan J A; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M; Callen, David; McMahon, Jacinta M; Yendle, Simone C; Carvill, Gemma L; Mefford, Heather C; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, Maria G; Zara, Federico; Smith, Nicholas J; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E; Gunning, Boudewijn; Kragh-Olsen, Bente; Dibbens, Leanne M