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

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Aicardi 综合征是一种遗传异质性疾病

Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M Ryan, Sophie Calvert, Clare L van Eyk, Michael Lardelli, Samuel F Berkovic, Richard J Leventer, Linda J

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

PIK3C2B基因突变导致的脂质信号传导缺陷是局灶性癫痫的根本原因。

Luca Gozzelino ,Gaga Kochlamazashvili ,Sara Baldassari ,Albert Ian Mackintosh ,Laura Licchetta ,Emanuela Iovino ,Yu Chi Liu ,Caitlin A Bennett ,Mark F Bennett ,John A Damiano ,Gábor Zsurka ,Caterina Marconi ,Tania Giangregorio ,Pamela Magini ,Marijn Kuijpers ,Tanja Maritzen ,Giuseppe Danilo Norata ,Stéphanie Baulac ,Laura Canafoglia ,Marco Seri ,Paolo Tinuper ,Ingrid E Scheffer ,Melanie Bahlo ,Samuel F Berkovic ,Michael S Hildebrand ,Wolfram S Kunz ,Lucio Giordano ,Francesca Bisulli ,Miriam Martini ,Volker Haucke ,Emilio Hirsch ,Tommaso Pippucci

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

KCNQ5 基因的功能丧失变异与遗传性全身性癫痫有关

Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J Steinhoff, Yvonne G Weber, Pascale Keo-Kosal, Samuel F Berkovic, Michael S Hildebrand, Steven Petrou, Roland Krause,

The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile

SMA-PME 的临床表现及其细胞神经酰胺谱的体外正常化

Michelle M Lee #, Graeme S V McDowell #, Darryl C De Vivo, Daniel Friedman, Samuel F Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A Sanchez-Lara, Michelle Allen-Sharpley, Jodi Warman-Chardon, Alexander Solyom, Thierry Levade, Edward H Schuchman, Steffany A L Bennett, David A Dy

Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy

局灶性皮质发育不良和癫痫的双通路、2 次打击遗传模型的证据

Mark F Bennett, Michael S Hildebrand, Sayaka Kayumi, Mark A Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J Henry, John A Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E Scheffer, Samuel F Berkovic

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

由 SLC7A6OS 纯合剪接变异引起的进行性肌阵挛性癫痫

Laure Mazzola, Karen L Oliver, Audrey Labalme, Betül Baykan, Mikko Muona, Tarja H Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel F Berkovic, Anna-Elina Lehesjoki, Gaetan Lesca

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

CEP85L基因的致病变异导致散发性和家族性后部为主的无脑回畸形

Meng-Han Tsai ,Alison M Muir ,Won-Jing Wang ,Yi-Ning Kang ,Kun-Chuan Yang ,Nian-Hsin Chao ,Mei-Feng Wu ,Ying-Chao Chang ,Brenda E Porter ,Laura A Jansen ,Guillaume Sebire ,Nicolas Deconinck ,Wen-Lang Fan ,Shih-Chi Su ,Wen-Hung Chung ,Edith P Almanza Fuerte ,Michele G Mehaffey ,Chung-Kin Chan ,Kheng-Seang Lim ,Richard J Leventer ,Paul J Lockhart ,Kate Riney ,John A Damiano ,Michael S Hildebrand ,Ghayda M Mirzaa ,William B Dobyns ,Samuel F Berkovic ,Ingrid E Scheffer ,Jin-Wu Tsai ,Heather C Mefford

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

与婴儿期发病的发育性和癫痫性脑病相关的新型错义 CACNA1G 突变

Géza Berecki, Katherine L Helbig, Tyson L Ware, Bronwyn Grinton, Cara M Skraban, Eric D Marsh, Samuel F Berkovic, Steven Petrou

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

第二次 DEPDC5 突变仅限于 IIA 型皮质发育不良中的畸形神经元

Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

灵长类动物特有的 PLEKHG6 异构体调节神经发生和神经元迁移

Adam C O'Neill, Christina Kyrousi, Johannes Klaus, Richard J Leventer, Edwin P Kirk, Andrew Fry, Daniela T Pilz, Tim Morgan, Zandra A Jenkins, Micha Drukker, Samuel F Berkovic, Ingrid E Scheffer, Renzo Guerrini, David M Markie, Magdalena Götz, Silvia Cappello, Stephen P Robertson