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Case Reports
. 2019 Oct 25;12(10):e231178.
doi: 10.1136/bcr-2019-231178.

Infantile refractory seizures due to de novo KCNT 1 mutation

Mahdi Alsaleem  1 , Vivien Carrion  2 , Arie Weinstock  3 , Praveen Chandrasekharan  2
Affiliations
Case Reports

Infantile refractory seizures due to de novo KCNT 1 mutation

Mahdi Alsaleem et al. BMJ Case Rep. .

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.

Keywords: epilepsy and seizures; neuro genetics; neurology (drugs and medicines).

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
(A) Neonatal bipolar montage revealing an ictal pattern of left more than the right hemisphere. The EEG seizure lasted 3 min on EEG. Neonatal bipolar montage revealing an ictal pattern of left more than the right hemisphere. The EEG seizure lasted 3 min on EEG. (B) MRI brain coronal section T2 image: normal MRI exam. C, cerebral cortex; CC, corpus callosum; CE, cerebellum; LV, lateral ventricle; M, medulla; P, parietal lobe; T, temporal lobe; TL, thalamus; TV, third ventricle; WM, white matter.
Figure 2
Figure 2
Pathophysiology of KCNT1 mutation in neonatal epileptic disorder, and speculative treatment approach. CBD, cannabidiol; GABA, gamma-aminobutyric acid.
See this image and copyright information in PMC

References

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