Title

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)

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