Potassium voltage-gated channel subfamily H member 1 (KCNH1) missense mutation causing epileptic encephalopathy and autistic behaviour

The phenotypically similar genetic diseases Zimmermann-Laband syndrome (ZLS) and Temple-Baraitser (TMBTS) cause neurodevelopmental problems. Mutations in the gene coding for potassium voltage-gated channel, primarily KCNH1, these symptoms. An uncommon mutation KCNH1 (p.Arg357Trp) present on Exon 7, reported to replace arginine with tryptophan at codon 357 of protein c.1069C>T, caused pharmacoresistant seizures autistic behaviour a 2.7-year-old boy. This causes problems modelling has yet be documented any databases around world. was overlapped GPHN gene, c.828+1G>A, our patient, causing GPHN-related spectrum disorder (autosomal dominant) along molybdenum cofactor deficiency recessive) leading neuropsychiatric presentation including behaviour, making diagnosis management even more complicated. Keywords: syndrome, Autism,