Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

Itziar Alonso-Colmenero, itziar.alonso@sjd.es Table 1). Exon 8 was specially populated with pathogenic variants, having 10. Thus, more than half of the variants identified concentrated in 5 of the 19 exons of the gene, which account for 1/3 of the base pairs of the canonical SYNGAP1 isoform (ENST00000455687.6)."The authors apologize for this errors and state that this does not change the scientific conclusions of the article in any way. The original version of this article has been updated.A correction has been made to the section: Results -'Genetic and clinical phenotyping of the cohort' - 1). Based on these, we identified 16 Pathogenic and 21 Likely Pathogenic variants (Table 1). We established that all variants in this cohort classified as with unknown significance (VUS) by Varsome were de novo, because of this, and following ACMG guidelines we could finally classify these as Likely pathogenic (5 variants marked with* in Table 1)."The authors apologize for this errors and state that this does not change the scientific conclusions of the article in any way. The original version of this article has been updated.A correction has been made to the section: Discussion -2nd paragraph Correct text:"We used different bioinformatics methods to re-evaluate the pathogenicity of all SYNGAP1 variants in the cohort, which were initially characterized by more than 20 different Hospitals, confirming that all were pathogenic or likely pathogenic. Of note, 16 of these variants had, to the best of our knowledge, never been previously reported in the literature. We identified 28 loss of function genetic variants, two causing large deletions encompassing the entire SYNGAP1 locus or variants that result in premature stop codons, these represent over 75% of the total. On the other hand, missense variants account for the remaining 25% of the variants. Similar proportions of these variant types are reported in Varsome for a much larger number of variants. While the effect on protein function or stability of missense variants is difficult to predict, and these could result in a reduction of functional SynGAP protein, it is also plausible that SYNGAP1 alleles with missense variants will be expressed at normal levels. This would mean that other pathological mechanisms, beyond that of haploinsufficiency originally proposed (Hamdan et al., 2009), might co-exist in SYNGAP1-DEE."