首页/数据集/Clinical features of patients with different <i>NPRL3</i> variants.

Clinical features of patients with different <i>NPRL3</i> variants.

NIAID Data Ecosystem2026-05-01 收录

数据链接：

https://figshare.com/articles/dataset/Clinical_features_of_patients_with_different_i_NPRL3_i_variants_/22703039 数据链接链接失效反馈

官方服务：

资源简介：

Clinical features of patients with different NPRL3 variants.

应用场景：

创建时间：

2023-04-26

癫痫遗传学

神经遗传学

Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We co

NIAID Data Ecosystem50

MOESM6 of Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

神经发育障碍

癫痫遗传学

Additional file 6: Contains Table S5. Selective expression profiles for union of modules based on strength of epilepsy association (Classes 1, 2, and 3 as C1, C2, and C3, respectively), including: Cel

DataCite Commons2020-08-26 更新40

Data_Sheet_1_SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.ZIP

癫痫遗传学

SCN基因突变

Background:SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mu

NIAID Data Ecosystem20

Additional file 11 of Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy

癫痫遗传学

基因敲入小鼠模型

Additional file11 (XLSX 53 KB)

NIAID Data Ecosystem40

Additional file 1 of Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

癫痫遗传学

离子通道

Additional file 1. Clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants.

Figshare2021-11-03 更新40