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heyunhua23
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2023-10-08 加入
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Functional evaluation of epilepsy‐associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties
16分钟前
已完结
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance
16小时前
已完结
CNKSR2-Related Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Report of Two Additional Cases and Review of the Literature
17小时前
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Gelastic seizures: Incidence, clinical and EEG features in adult patients undergoing video‐EEG telemetry
1天前
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Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
1天前
已完结
Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability
1天前
已完结
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
2天前
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Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
3天前
已完结
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
3天前
已完结
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability
4天前
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