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] 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]. The correct pathogenic variant should be amended in the abstract (patient description) as well as in the text (2. Case description, last paragraph).

Source: Brain and Development - November 24, 2023 Category: Neurology Authors: Robertino Dilena, Pasquale Striano, Monica Traverso, Maurizio Viri, Gloria Cristofori, Laura Tadini, Sergio Barbieri, Antonino Romeo, Federico Zara Tags: Corrigendum Source Type: research