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Article

Adult phenotype of KCNQ2 encephalopathy.

Journal of medical genetics - 1 Jun 2022

Boets Stephanie, Johannesen Katrine M, Destree Anne, Manti Filippo, Ramantani Georgia, Lesca Gaetan, Vercueil Laurent, Koenig Mary Kay, Striano Pasquale, Møller Rikke Steensbjerre, Cooper Edward, Weckhuysen Sarah

Abstract excerpt

BACKGROUND: Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy. METHODS: We recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging and treatment history. RESULTS: While most patients had daily seizures at seizure onset, seizure frequency declined or remitted during childhood and adulthood. The...

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Source

Identifiers

PMID: 33811133
DOI: 10.1136/jmedgenet-2020-107449

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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