CRISPR/Cas9 technology deleted a single base, T, at position 1008 (c.1008delT) resulting in a histidine to glycine substitution at residue 336 followed by a frameshift resulting in a premature stop codon 12 codons downstream (p.His336Glnfs*12). This is a pathogenic variant seen in patients with DOORS syndrome or early infantile epileptic encephalopathy 16.