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

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,

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy

由于两种 KCNQ5 孔变体的开放概率增加而获得功能,从而导致发育性和癫痫性脑病

Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Dorothee Ville, Thomas Smol, Mélanie Rama, Anne Dieux-Coeslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela

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

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

NCKAP1 破坏性变异会导致具有自闭症核心特征的神经发育障碍

Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K Chung, Rebecca Hernan, Fowzan S Alkuraya, Ahood Alsulaiman, Mohammad A Al-Muhaizea, Gaetan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J Brown, Elena Savva, Samantha A

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

下颌-骨盆-髌骨综合征是一种新型的 PITX1 相关疾病,因 PITX1 转录激活能力发生改变而引起

Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano R