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

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

癫痫多发家族:临床和分子遗传学特征分析的成功

Afawi, Zaid; Oliver, Karen L; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y; Helbig, Katherine L; Goldberg-Stern, Hadassa; Misk, Adel J; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H; Mangelsdorf, Marie; MacPherson, James N; Carvill, Gemma L; Mefford, Heather C; Jackson, Graeme D; Scheffer, Ingrid E; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E; Corbett, Mark; Mulley, John C; Dibbens, Leanne M; Korczyn, Amos D; Berkovic, Samuel F

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24

局灶性癫痫和智力障碍综合征是由TBC1D24基因突变引起的。

Corbett, Mark A; Bahlo, Melanie; Jolly, Lachlan; Afawi, Zaid; Gardner, Alison E; Oliver, Karen L; Tan, Stanley; Coffey, Amy; Mulley, John C; Dibbens, Leanne M; Simri, Walid; Shalata, Adel; Kivity, Sara; Jackson, Graeme D; Berkovic, Samuel F; Gecz, Jozef

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

人类 PRICKLE1 基因的纯合突变会导致常染色体隐性遗传的进行性肌阵挛性癫痫共济失调综合征。

Bassuk, Alexander G; Wallace, Robyn H; Buhr, Aimee; Buller, Andrew R; Afawi, Zaid; Shimojo, Masahito; Miyata, Shingo; Chen, Shan; Gonzalez-Alegre, Pedro; Griesbach, Hilary L; Wu, Shu; Nashelsky, Marcus; Vladar, Eszter K; Antic, Dragana; Ferguson, Polly J; Cirak, Sebahattin; Voit, Thomas; Scott, Matthew P; Axelrod, Jeffrey D; Gurnett, Christina; Daoud, Azhar S; Kivity, Sara; Neufeld, Miriam Y; Mazarib, Aziz; Straussberg, Rachel; Walid, Simri; Korczyn, Amos D; Slusarski, Diane C; Berkovic, Samuel F; El-Shanti, Hatem I