Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Mirella VinciPetri KursulaDonatella GrecoMaurizio EliaLuigi VetriCarmelo SchepisValeria ChiavettaSerena DonadioMichele RoccellaMarco CarotenutoValentino RomanoFrancesco CalìPublished in: Molecular genetics & genomic medicine (2022)
We discuss an alternative interpretation on the potential involvement of the two missense mutations in the AHNAK2 gene on the expression of CFC-like phenotype in this patient based on inter-allelic complementation.