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Article

Infantile refractory seizures due to de novo KCNT 1 mutation.

BMJ case reports - 25 Oct 2019

Alsaleem Mahdi, Carrion Vivien, Weinstock Arie, Chandrasekharan Praveen

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Sodium-Activated

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Source

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Identifiers

PMID: 31653631
DOI: 10.1136/bcr-2019-231178
PMCID: PMC6827758

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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