In many children, seizures begin in the first days or months of life. Parents may notice a subtle movement of a single hand or foot which may then spread to involve the other side of the body. There may be only a few seizures per day, but many children have 50 or more. Children with KCNT1-related encephalopathic epilepsy typically start missing their normal developmental milestones within months of the seizures beginning, and some never learn to walk or talk.

The other main form of KCNT1-related seizures leads to frontal lobe epilepsy with psychiatric symptoms referred to as Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) or Sleep-related Hypermotor Epilepsy (SHE). These children typically begin having seizures before adolescence, but later than children who have kcnt1-related epileptic encephalopathy.

The seizures usually happen during sleep and occur in clusters. They can go unrecognized and can be initially misinterpreted as night terrors. In these children the first sign of a problem can be missed milestones in infancy or early childhood. The diagnosis of KCNT1 related epilepsy is made by genetic testing. Additional testing may be performed as indicated.

Other less common health issues can result from KCNT1. Please contact us if you have a pathogenic or likely pathogenic variant and no symptoms, or if you have a Variant of Unknown Significance but you have symptoms. We may be able to put you in touch with a genetic counselor or clinician. info@kcnt1epilepsy.org