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Article

De novo variants in KCNA3 cause developmental and epileptic encephalopathy

15 Nov 2023

Abstract excerpt

OBJECTIVE: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies (DEEs). We investigated whether variants in KCNA3, another mammalian homologue of the Drosophila shaker family and encoding for Kv1.3 subunits, can cause DEE. METHODS: Genetic analysis of study individuals was performed by routine exome or genome sequencing, usually of...

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PMID: 37964487
DOI: 10.1002/ana.26826

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