Evidence map›Paper›PMID 41615502›Full record

ArticleNeurogenetics2026

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Enrica Marchionni, Vito Luigi Colona, Emanuele Agolini, Michela Murdocca, Monia Russo, Maria Stellato, Valeria Latini, Elena Campione, Anna Maria Nardone, Paola Spitalieri and 4 more

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In one paragraph

Article in Neurogenetics, 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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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Enrica MarchionniMedical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy. enrica.marchionni@ptvonline.it.
Vito Luigi ColonaUnit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Emanuele AgoliniTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Michela MurdoccaDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Monia RussoDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Maria StellatoChild Neurology and Psychiatry Unit, Policlinico Tor Vergata, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, University of Rome Tor Vergata, Rome, Italy.
Valeria LatiniChild Neurology and Psychiatry Unit, Policlinico Tor Vergata, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, University of Rome Tor Vergata, Rome, Italy.
Elena CampioneDermatologic Unit, Policlinico Tor Vergata, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Anna Maria NardoneMedical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Paola SpitalieriDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Luigi MazzoneChild Neurology and Psychiatry Unit, Policlinico Tor Vergata, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, University of Rome Tor Vergata, Rome, Italy.
Antonio NovelliTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Federica SangiuoloMedical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Giuseppe NovelliMedical Genetics Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.

Funding

Italian Ministry of Health with current research funds RC2025 n. 001417/25 to V.L.C.Linee di finanziamento per l'attuazione del Piano Nazionale Malattie Rare 2023-2026 ai sensi dell'Accordo Stato-Regioni n. 121 del 24 maggio 2023 to G.N
6 · The paper itself

Abstract

De novo KCNA3 variants cause a Developmental and Epileptic Encephalopathy (DEE). We describe a 14-year-old boy presenting with DEE and carrying a heterozygous de novo KCNA3 (NM_002232.4) variant (c.1433T>A, p.Val478Glu) and an inherited KCNQ3 (NM_004519.3) variant (c.1720C>T, p.Pro574Ser). Human dermal fibroblasts (HDFs) were isolated from the patient and an age-matched control. KCNA3 and KCNQ3 transcript levels were quantified by qRT-PCR, showing in patient-HDFs a reduction of 77% and 40%, respectively (p < 0.0001; p = 0.0002). Western blot confirmed decreased KCNA3 and KCNQ3 protein levels by 50% and 35%, respectively (p < 0.05). The contributing role of both variants supports the rationale for a channel-targeted treatment strategy.

Indexed as

Developmental DisabilitiesEpilepsyIntellectual DisabilityKCNQ3 Potassium ChannelMutation, MissenseAdolescentHumansMaleKCNQ3 Potassium ChannelKCNQ3 protein, humanEpileptic encephalopathyKCNA3KCNQ3Potassium channels

Identifiers

PMID41615502

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.