SCAF4 variants are associated with epilepsy with neurodevelopmental disorders
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference22 articles.
1. A missense mutation in Slc6a1 associated with lennox-gastaut syndrome impairs Gaba transporter 1 protein trafficking and function;Cai;Exp Neurol,2019
2. Scaf4-related syndromic intellectual disability;Carvalho;Am J Med Genet A,2023
3. The implications of alternative pre-mrna splicing in cell signal transduction;Choi;Exp Mol Med,2023
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5. Complex autism spectrum disorder with epilepsy, strabismus and self-injurious behaviors in a patient with a De Novo heterozygous Polr2a variant;Evans;Genes (Basel),2022
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