Infantile refractory seizures due to de novo KCNT 1 mutation.
We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.
BMJ Case Rep
Anticonvulsants; Electroencephalography; Epilepsy; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Mutation; Nerve Tissue Proteins; Potassium Channels, Sodium-Activated; Seizures
epilepsy and seizures; neuro genetics; neurology (drugs and medicines)
Alsaleem M, Carrion V, Weinstock A, Chandrasekharan P. Infantile refractory seizures due to de novo KCNT 1 mutation. BMJ Case Rep. 2019;12(10):e231178. Published 2019 Oct 25. doi:10.1136/bcr-2019-231178