A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
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2. NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant;Epilepsia;2023-04-17
3. Transcriptional landscape of myasthenia gravis revealed by weighted gene coexpression network analysis;Frontiers in Genetics;2023-03-27
4. Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB;neurogenetics;2023-02-13
5. Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy;Stem Cell Research;2022-12
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