A heterozygous STXBP1 gene de novo mutation in an Iranian child with epileptic encephalopathy: Case report

https://adir.tums.ac.ir/article/A-heterozygous-STXBP1-gene-de-novo-mutation-in-an-Iranian-child-with-epileptic-encephalopathy:-Case-report

encephalopathy: Case report A heterozygous STXBP1 gene de novo mutation in an Iranian child with epileptic encephalopathy: Case report --> The Syntaxin Binding Protein 1 (STXBP1) plays an important role in regulating neurotransmitterrelease and synaptic...