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Gaëtan Lesca

lyon 1 universite
H指数:67
被引数:1.4万

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Absence of familial adult myoclonic epilepsy-associated intronic repeat expansions in SAMD12, STARD7, and MARCHF6 genes in juvenile myoclonic epilepsy with tremor

在伴有震颤的少年肌阵挛癫痫中,未发现与家族性成人肌阵挛癫痫相关的SAMD12、STARD7和MARCHF6基因内含子重复扩展

2026-10-250
PRE
Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization

利用异常表达分析和表型驱动优先排序对线粒体疾病常规诊断的优化RNA-seq工作流程

2026-10-120
OAAI
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

<i>SLC7A6OS</i>始祖突变:一种可追溯至1100年前的进行性肌阵挛癫痫的罕见病因

2026-09-180
OAAI
Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy

复合杂合SLC12A5变异扩展了KCC2-发育性和癫痫性脑病的分子和功能谱

2026-04-250
OAAI
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

snRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异

2026-03-300
OAAI
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

PACS1相关疾病的DNA甲基化特征及24例未报道个体的临床界定

2026-03-250
PRE
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑部畸形、神经发育障碍和癫痫。

2026-01-130
OAAI
Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A功能缺失变体会增加早发性精神分裂症及其他精神障碍的风险,并可能实现精准治疗

2026-01-070
OAAI
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关,可导致体外神经元成熟受损。

2025-11-240
OAAI
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

TTN变异在基因组时代的负担:对Solve-RD联盟18,462名个体的分析及一般性建议

2025-11-200
OAAI
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes

NPRL3相关癫痫中的危机样发作恶化:表型特征及治疗结局

2025-11-010
PRE
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A功能丧失性变异会增加早发性精神分裂症及其他精神疾病的风险,并可能实现精准治疗。

2025-10-140
OA
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

基因组测序在法国医疗保健体系中对智力障碍的诊断应用:作为罕见病研究范式的DEFIDIAG前瞻性研究

2025-10-040
OAAI
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性结局:来自一个大宗国际登记研究的见解

2025-08-180
PRE
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

法国多中心队列2563例接受遗传诊断的癫痫患者的临床与遗传特征图谱

2025-08-080
OAAI
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病性变异相关的神经表型谱:一项综合性病例系列研究

2025-07-010
OAAI
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome

拓宽与FGF12基因致病性变异相关的表型:从发育性癫痫性脑病到药物可控制癫痫伴良好认知结局

2025-06-090
OAAI