Article

KCNQ2 related-epilepsy: Report of nine cases and novel loss-of-function missense variants

2022-09-08

Abstract excerpt

Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal M-current, have been associated with infantile-onset epileptic disorders. The clinical spectrum ranges from self-limited neonatal seizures to epileptic encephalopathy and delayed development. Mutations of KCNQ2 could be either gain- or loss-of-function which require different therapeutic approaches. To better understand genoty...

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Literature Corpus work: c25269c8-0d66-5657-b978-2b7fd651bc7d
DOI: 10.21203/rs.3.rs-1966853/v1

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