KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Open accessAbstract
Objective: Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2‐related DEE, and the in vitro functional and pharmacological properties of KCNT2 channels carrying 14 novel or previously untested variants. Methods: Twenty‐five patients harboring KCNT2 variants were investigated: 12 were identified through an international collaborative network, 13 were retrieved from the literature. Clinical data were collected and included in a standardized phenotyping sheet. Novel variants were detected using exome sequencing and classified using ACMG criteria. Functional and pharmacological studies were performed by whole‐cell electrophysiology in HEK‐293 and SH‐SY5Y cells. Results: The phenotypic spectrum encompassed: (a) intellectual disability/developmental delay (21/22 individuals with available information), ranging from mild to severe/profound; (b) epilepsy (15/25); (c) neurological impairment, with altered muscle tone (14/22); (d) dysmorphisms (13/20). Nineteen pathogenic KCNT2 variants were found (9 new, 10 reported previously): 16 missense, 1 in‐frame deletion of a single amino acid, 1 nonsense, and 1 frameshift. Among tested variants, 8 showed gain‐of‐function (GoF), and 6 loss‐of‐function (LoF) features when expressed heterologously in vitro. Quinidine and fluoxetine blocked all GoF variants, whereas loxapine and riluzole activated some LoF variants while blocking others. Interpretation: We expanded the phenotypic and genotypic spectrum of KCNT2‐related disorders, highlighting novel genotype–phenotype associations. Pathogenic KCNT2 variants cause GoF or LoF in vitro phenotypes, and each shows a unique pharmacological profile, suggesting the need for in vitro functional and pharmacological investigation to enable targeted therapies based on the molecular phenotype. ANN NEUROL 2023;94:332–349
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The approach of using Neuro-2A cells to validate the impact of missense variants associated with human disorders is still being used successfully in recent studies.
“this approach is still being used successfully in recent studies to validate the impact of missense variants associated with human disorders (Cioclu et al. 2023)”
From Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly (2024) · cites this paper as Cioclu et al. 2023
The Methods (page unavailable) and Results, ‘Functional Analysis of KCNT2 Channels Carrying Disease-Causing Variants’ (page unavailable), describe testing disorder-associated variants in cultured cells and finding functional effects. But the cells were HEK-293 and SH-SY5Y, not Neuro-2A, so the paper does not support the claim about continued use of Neuro-2A cells. (LLM, conf=0.86)
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“Nevertheless, this approach is still being used successfully in recent studies to validate the impact of missense variants associated with human disorders (Cioclu et al. 2023).”
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- Authors
- Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D., Nardello, R., KCNT2‐study group, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, G., & Taglialatela, M.
- Affiliations
- University of Modena and Reggio Emilia (IT)
- University of Molise (IT)
- University of Sannio (IT)
- University of Southern Denmark (DK)
- Paracelsus Medical University (AT)
- University Hospital Leipzig (DE)
- Tsuchiura Kyodo General Hospital (JP)
- Yokohama City University (JP)
- University of California, San Francisco (US)
- Université de Bordeaux (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Istituto Giannina Gaslini (IT)
- Christian-Albrechts-Universität zu Kiel (DE)
- Pathophysiology and Genetics of Neuron and Muscle (PNMG) UCBL, CNRS UMR5261—INSERM U1315 Lyon France
- University of Palermo (IT)
- University of Copenhagen (DK)
- University of Naples Federico II (IT)
- Corresponding author
- Rubboli, Guido
- Taglialatela, Maurizio
- ORCID
- Cioclu, Maria Cristina
- Ambrosino, Paolo
- Bayat, Allan
- Wortmann, Saskia B.
- Koch, Johannes
- Strehlow, Vincent
- Matsumoto, Naomichi
- Sanders, Stephan J.
- Michaud, Vincent
- Legendre, Marine
- Riva, Antonella
- Striano, Pasquale
- Pendziwiat, Manuela
- Lesca, Gaetan
- Mangano, Giuseppe Donato
- Nardello, Rosaria
- Lemke, Johannes R.
- Møller, Rikke S.
- Soldovieri, Maria Virginia
- Rubboli, Guido
- Taglialatela, Maurizio
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2023-05-22
- Volume
- 94
- Issue
- 2
- Pages
- 332-349
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC13007567
- OpenAlex
- W4366084100
- Cited by
- 23
- References
- 48
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 7 · 2023: 1
- FWCI
- 4.68
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annals of Neurology (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion, other-oa)
- Archivio Istituzionale della Ricerca - Università degli Studi del Molise (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Nova Science Publishers (Nova Science Publishers, Inc.) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Japan Agency for Medical Research and Development (JP21ek0109493, JP21cm0106503, JP21ek0109549, JP21ek0109486)
- Ministero dell’Istruzione, dell’Università e della Ricerca (PRIN 2017ALCR7C)
- Ministero della Salute (RF‐2019‐12370491)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- developmental and epileptic encephalopathy, gain-of-function mutations, loss-of-function mutations, genotype-phenotype correlation, intellectual disability, epilepsy, muscle tone, dysmorphic features, quinidine, fluoxetine, loxapine, riluzole, ion channel pharmacology, novel variants
- MeSH terms
- Potassium Channels, Sodium-Activated, Genotype, Humans, Intellectual Disability, Neuroblastoma, Phenotype, HEK293 Cells
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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