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Article

Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.

Epilepsy & behavior : E&B - 1 May 2023

Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill Iga, Remonato E, Gramaglia S, Darra F

Abstract excerpt

Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). Comorbidities associated with this end of the spectrum have been seldomly described and their impact on the life of patients and their families is yet to be investigated. Collaborating with caregivers from different European...

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Identifiers

PMID: 36989566
DOI: 10.1016/j.yebeh.2023.109153

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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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