Wei‐Ping Liao

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders

Yan‐Fang Li, Pei Mo, Lan-Zhen Zhang, Xinlong Zhou et autres

Purpose CACNA1C variants have been identified in cardiac arrhythmias and developmental disorders (DD). Here, we aimed to explore the association between CACNA1C and epilepsy and the mechanism underlying phenotypic heterogeneity. Methods Trio-based whole-exome sequencing was performed in patients with focal epilepsy. Genes …

cn (code pays fourni par la source)

Identification of novel potential causative genes of childhood epileptic encephalopathies

Yi‐Wu Shi, Jian-Guo Zhang, Zi-Long Ye, Na He et autres

A phase 3, randomized clinical trial of soticlestat as adjunctive therapy for Lennox–Gastaut syndrome

Renzo Guerrini, Eric D. Marsh, Wei‐Ping Liao, Katsumi Imai et autres

OBJECTIVE: There remains a need for new treatments for Lennox-Gastaut syndrome (LGS), a developmental and epileptic encephalopathy with a heterogenous patient population that often requires polytherapy. The phase 3, randomized SKYWAY study (NCT04938427) investigated the efficacy and safety of the cholesterol 24-hydroxylase …

it, us, cn, jp, rs, hu, ca, fr (code pays fourni par la source)

De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum

Xiao‐Yu Liang, Xianghong Meng, Wuchen Wu, Jing Guo et autres

OBJECTIVE: The SRCAP gene encodes a core catalytic subunit of adenosine triphosphate-dependent chromatin remodeling complexes that play an essential role in chromatin regulation and neurodevelopment. Our recent study showed that the EP400 gene, the paralog of SRCAP, is associated with neurodevelopmental disorders …

cn (code pays fourni par la source)

Reply: USP25 in genetic generalized epilepsy: a gene under scrutiny

Zi-Long Ye, Wenbin Li, Cui-Xia Fan, Jie Wang et autres

Zi-Long Ye, Wen-Bin Li, Cui-Xia Fan, Jie Wang, Bin Li, Sheng Luo, Zi-Sheng Lin, Liang-Di Gao, Tao Su, Yong-Hong Yi, Yi-Wu Shi, Wei-Ping Liao; Reply: USP25

cn (code pays fourni par la source)

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care

Jie Mu, Weijia Jiang, Ying Tang, Dong Zhou et autres

cn (code pays fourni par la source)

Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations

Kaili Zhang, Jie Wang, Zhihong Tang, Qiong‐Xiang Zhai et autres

cn (code pays fourni par la source)

Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay

Junping Jiao, Hongwei Zhang, Xi-zhong Zhou, Shujuan Tian et autres

BACKGROUND: The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger that is essential in regulating endosomal PH and volume. SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. It is unknown whether SLC9A6 variants are …

cn, ir (code pays fourni par la source)

Variants in CSMD2 and CSMD3 , genes involved in synaptogenesis, are associated with epilepsies

Xiang Li, Lin Wang, Xiaoyu Liang, Hongwei Zhang et autres

OBJECTIVE: The CSMD genes, including CSMD1, CSMD2, and CSMD3, encoding synaptic transmembrane proteins, play important roles in neuronal maturation, growth of dendrites, and processes of synapses. Our recent study showed that CSMD1 was associated with developmental epileptic encephalopathy (DEE) and generalized epilepsy. …

cn (code pays fourni par la source)

Identification of MACF1 as a causative gene of generalised epilepsy

Lei Xiao-yun, Mengwen Zhang, Hui Sun, Wang Song et autres

Background The microtubule actin crosslinking factor 1 (MACF1) gene encodes microtubule–microfilament cross-linking factor 1 that plays an essential role in the embryonic brain development. MACF1 variants were associated with lissencephaly-9 (LIS9). However, the MACF1-epilepsy relationship was unknown. Methods Trios-based whole-exome sequencing was …

cn (code pays fourni par la source)

Research on Transformer Life Prediction Optimized by Artificial Intelligence Algorithm

Aihui Wen, Bao Wen, Kunyu Song, Wei‐Ping Liao et autres

To address the issues of low fitting accuracy and poor generalization capability in existing transformer life prediction models, this paper proposes a transformer life prediction method based on artificial intelligence algorithm optimization, aiming to improve prediction accuracy and stability. By constructing a …

cn (code pays fourni par la source)

Protective effect of CACNA1A deficiency in oligogenic refractory epilepsy with CACNA1A‐CELSR2 digenic mutations

ChengYan Liu, Xuefei Zhang, Ruina Huang, Ming‐Feng He et autres

OBJECTIVE: The vast majority of refractory epilepsy cases have a complex oligogenic/polygenic origin, which presents a challenge to precision medicine in individual patients. Nonetheless, the high workload and lack of effective guidelines have limited the number of in-depth animal studies. METHODS: Whole-exon …

cn (code pays fourni par la source)