Corrigendum to “dramatic Effect of Levetiracetam in Early-Onset Epileptic Encephalopathy Due to STXBP1 Mutation” [brain Dev. 38(1) (2016) 128–131]

The authors communicate that the STXBP1 pathogenic variant of the patient described in the article [[1]Dilena R. Striano P. Traverso M. Viri M. Cristofori G. Tadini L. et al.Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.Brain Dev. 2016; 38: 128-131Abstract Full Text Full Text PDF PubMed Scopus (37) Google Scholar] is not c.[922A>T], p.[Lys308(∗)] but rather c.704G>A, p.Arg235Gln, which is predicted to be probably pathogenetic by in silico analysis and it has been also reported in another STXBP1 patient (case decipher ID#258815) [[2]Suri M. Evers J.M.G. Laskowski R.A. O'Brien S. Baker K. Clayton-Smith J. et al.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.Mol Genet Genomic Med. 2017; 5: 495-507Crossref PubMed Scopus (22) Google Scholar]. The correct pathogenic variant should be amended in the abstract (patient description) as well as in the text (2. Case description, last paragraph). The authors apologize for this mistake. Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutationBrain and DevelopmentVol. 38Issue 1PreviewSyntaxin Binding Protein 1 (STXBP1) mutations determine a central neurotransmission dysfunction through impairment of the synaptic vesicle release, thus causing a spectrum of phenotypes varying from syndromic and non-syndromic epilepsy to intellectual disability of variable degree. Among the antiepileptic drugs, levetiracetam has a unique mechanism of action binding SV2A, a glycoprotein of the synaptic vesicle release machinery. Full-Text PDF