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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

KCNC1基因的复发性新生突变会导致进行性肌阵挛性癫痫

Muona Mikko, Berkovic Samuel F, Dibbens Leanne M, Oliver Karen L, Maljevic Snezana, Bayly Marta A, Joensuu Tarja, Canafoglia Laura, Franceschetti Silvana, Michelucci Roberto, Markkinen Salla, Heron Sarah E, Hildebrand Michael S, Andermann Eva, Andermann Frederick, Gambardella Antonio, Tinuper Paolo, Licchetta Laura, Scheffer Ingrid E, Criscuolo Chiara, Filla Alessandro, Ferlazzo Edoardo, Ahmad Jamil, Ahmad Adeel, Baykan Betul, Said Edith, Topcu Meral, Riguzzi Patrizia, King Mary D, Ozkara Cigdem, Andrade Danielle M, Engelsen Bernt A, Crespel Arielle, Lindenau Matthias, Lohmann Ebba, Saletti Veronica, Massano João, Privitera Michael, Espay Alberto J, Kauffmann Birgit, Duchowny Michael, Møller Rikke S, Straussberg Rachel, Afawi Zaid, Ben-Zeev Bruria, Samocha Kaitlin E, Daly Mark J, Petrou Steven, Lerche Holger, Palotie Aarno, Lehesjoki Anna-Elina

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

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

拷贝数变异在伴有智力障碍的遗传性全身性癫痫中很常见

Mullen, Saul A; Carvill, Gemma L; Bellows, Susannah; Bayly, Marta A; Trucks, Holger; Lal, Dennis; Sander, Thoman; Berkovic, Samuel F; Dibbens, Leanne M; Scheffer, Ingrid E; Mefford, Heather C

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.

SCARB2 缺陷个体转化 B 淋巴细胞中自噬体的异常加工

Gleich Kurt, Desmond Michael J, Lee Darren, Berkovic Samuel F, Dibbens Leanne M, Katerelos Marina, Bayly Marta A, Fraser Scott A, Martinello Paul, Vears Danya F, Mount Peter, Power David A

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

特发性全身性癫痫中的家族性和散发性15q13.3微缺失:复杂遗传疾病的先例

Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo; Mefford, Heather C; Bayly, Marta A; Bellows, Susannah; Leu, Costin; Trucks, Holger; Obermeier, Tanja; Wittig, Michael; Franke, Andre; Caglayan, Hande; Yapici, Zuhal; Sander, Thomas; Eichler, Evan E; Scheffer, Ingrid E; Mulley, John C; Berkovic, Samuel F

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

对三名无关受试者进行基于芯片的基因发现表明,SCARB2/LIMP-2 缺陷会导致肌阵挛性癫痫和肾小球硬化

Berkovic Samuel F, Dibbens Leanne M, Oshlack Alicia, Silver Jeremy D, Katerelos Marina, Vears Danya F, Lüllmann-Rauch Renate, Blanz Judith, Zhang Ke Wei, Stankovich Jim, Kalnins Renate M, Dowling John P, Andermann Eva, Andermann Frederick, Faldini Enrico, D'Hooge Rudi, Vadlamudi Lata, Macdonell Richard A, Hodgson Bree L, Bayly Marta A, Savige Judy, Mulley John C, Smyth Gordon K, Power David A, Saftig Paul, Bahlo Melanie