There are more rare exceptions where the variant may be present in one parent, for example in a mosaic pattern (not present in all cells, but perhaps only in a fraction of cells or just in a fractions of egg cells or sperm cells, so the parent does not show signs of illness). Pathogenic variants that are associated with the more severe developmental and epileptic encephalopathy (DEE) are usually de novo, meaning that the variant is detected only in the affected person and is not in either parent. In such cases, there is often a family history of neonatal seizures that spontaneously resolved. KCNQ2 pathogenic variants that result in symptoms on the mild end of the spectrum, specifically benign familial neonatal epilepsy (BFNE), are typically inherited in an autosomal dominant fashion, meaning that one or the other parent has the same variant. KCNQ2 pathogenic variants are associated with a wide range of severity of both seizures and development. These channels allow potassium to move outside of the cell, and if the channels are not working properly, brain cells are predisposed to generate excessive electrical signals that may lead to seizures. The KCNQ2 gene provides instructions for making potassium channels in the brain cells.
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