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20 积分 2024-11-23 加入
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
20小时前
求助中
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
1天前
求助中
Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
2天前
已完结
Acetazolamide as a Therapeutic Alternative for Central Sleep Apnea in Pediatric Patient with FBXO28 Gene Mutation: A case report and Review of Literature
3天前
已完结
ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype
10天前
已完结
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
13天前
已完结
Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies
13天前
已完结
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review
14天前
已完结
A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family
17天前
已完结
Congenital myasthenic syndrome from aMUSKgene mutation
19天前
已完结
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