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The KCNT1 gene encodes a sodium-gated potassium channel subunit, which modulates hyperpolarization after repetitive neural firing.1 In 2012, mutations in KCNT1 were discovered in the familial focal epilepsy syndrome, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE),2 and in an early-onset epileptic encephalopathy known as malignant migrating focal seizures of infancy.3 Subsequently, it has become apparent that the phenotypic spectrum associated with KCNT1 mutations includes pleiotropy, incomplete penetrance, and other forms of focal epilepsy and epileptic encephalopathies.1 Also, ADNFLE has been associated with mutations in 3 nicotinic acetylcholine receptor (nAChR) subunit genes.1 Those patients with ADNFLE with KCNT1 have a more severe disorder with earlier age at seizure onset, more refractory seizures, and more comorbid intellectual disability and psychiatric problems than those with nAChR mutations.
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