Infantile refractory seizures due to de novo KCNT 1 mutation.
Document Type
Article
Publication Date
10-25-2019
Identifier
DOI: 10.1136/bcr-2019-231178
Abstract
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.
Journal Title
BMJ Case Rep
Volume
12
Issue
10
MeSH Keywords
Anticonvulsants; Electroencephalography; Epilepsy; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Mutation; Nerve Tissue Proteins; Potassium Channels, Sodium-Activated; Seizures
Keywords
epilepsy and seizures; neuro genetics; neurology (drugs and medicines)
Recommended Citation
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
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