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Article

Antisense oligonucleotide therapy for KCNT1 encephalopathy

29 Sept 2022

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are characterized by pharmaco-resistant seizures with concomitant intellectual disability. Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe of these syndromes. De novo variants in ion channels, including gain-of-function variants in KCNT1, which encodes for sodium activated potassium channel protein KNa1.1, have been found to...

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PMID: 36173683
DOI: 10.1172/jci.insight.146090

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