ReviewDevelopmental medicine and child neurology2026
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.
Review in Developmental medicine and child neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The aim of this study was to review and summarize the literature describing clinically observed or caregiver-reported and patient-reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023). Case reports and series, observational studies, non-randomized and single-arm trials, and registries and databases reporting seizure-related and non-seizure-related outcomes in patients aged 18 years or younger with KCNQ2 DEE were eligible for inclusion. Results were summarized according to outcome type (seizure-related and non-seizure-related) and patient age. Of 92 publications reporting KCNQ2 DEE outcomes, 70 reported patient-level data, of which the most common age was younger than 5 years old. Seizures were frequently reported (69 of 70 publications for 338 patients). Seizure onset was primarily within the first week of life (n = 334 of 356 seizure events; 93.8%), with frequency commonly reported as 'multiple daily'. Seizure resolution was reported for 56.2% of patients; most (87.0%) achieved resolution by age 5 years. Seventy publications reported non-seizure-related outcomes for 289 patients. Neurological (73.3%) and developmental (52.9%) manifestations were frequently reported, with muscle tone (71.7%), gross motor (67.3%), and communication (66.6%) impairments being most common. Similar findings were observed across 23 publications reporting pooled patient data. While seizures were typically resolved in early life, non-seizure-related outcomes gained more prominence as children aged, highlighting the evolving challenges for individuals living with KCNQ2 DEE.
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