KCNQ2 -related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous pathogenic variant in KCNQ2. The diagnosis relies on the presence of characteristic clinical findings and heterozygous pathogenic variants in KCNQ2 also known as Kv7. KCNQ2 -related disorders are inherited in an autosomal dominant manner. Prenatal diagnosis for pregnancies at increased risk is possible if Hot Liestal Nyon select escorts pathogenic variant in the family is known.
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