SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
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Objective: Pathogenic variants in SCN3A, encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A‐related neurodevelopmental disorder. Methods: Patients were ascertained via an international collaborative network. We compared sodium channels containing wild‐type versus variant Nav1.3 subunits coexpressed with β1 and β2 subunits using whole‐cell voltage clamp electrophysiological recordings in a heterologous mammalian system (HEK‐293T cells). Results: Of 22 patients with pathogenic SCN3A variants, most had treatment‐resistant epilepsy beginning in the first year of life (16/21, 76%; median onset, 2 weeks), with severe or profound developmental delay (15/20, 75%). Many, but not all (15/19, 79%), exhibited malformations of cortical development. Pathogenic variants clustered in transmembrane segments 4 to 6 of domains II to IV. Most pathogenic missense variants tested (10/11, 91%) displayed gain of channel function, with increased persistent current and/or a leftward shift in the voltage dependence of activation, and all variants associated with malformation of cortical development exhibited gain of channel function. One variant (p.Ile1468Arg) exhibited mixed effects, with gain and partial loss of function. Two variants demonstrated loss of channel function. Interpretation: Our study defines SCN3A‐related neurodevelopmental disorder along a spectrum of severity, but typically including epilepsy and severe or profound developmental delay/intellectual disability. Malformations of cortical development are a characteristic feature of this unusual channelopathy syndrome, present in >75% of affected individuals. Gain of function at the channel level in developing neurons is likely an important mechanism of disease pathogenesis. ANN NEUROL 2020;88:348–362
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75% of patients with SCN3A GOF variants have a malformation of cortical development (MCD), such as polymicrogyria.
“Intriguingly, 75% of patients with SCN3A GOF variants have a malformation of cortical development (MCD), such as polymicrogyria 36,37 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [37]
The Discussion (Genotype-phenotype correlations) reports cortical malformations in 13 of 16 patients (81%) with gain-of-function variants, not 75%; its 75% figure refers to developmental and epileptic encephalopathy. The Results (Clinical characteristics) identify polymicrogyria as a common cortical malformation, so the association and example are supported, but the stated percentage is not. (LLM, conf=0.90)
Experimental — accuracy not yet measuredThe association of SCN3A pathogenic variants with MCD reflects a key role for sodium conductance in cortical progenitors, which affects cortical gyration during early brain development.
“The association of SCN3A pathogenic variants with MCD 37 , therefore, reflects a key role for sodium conductance in cortical progenitors, which affects cortical gyration during early brain development 39 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [37]
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Modulation of hNav by Tst1, a β-toxin purified from the scorpion Tityus stigmurus
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- Authors
- Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben‐Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T., Ackermann, S., Spencer, C. E., Lippa, N., Srinivasan, S., Charzewska, A., Hoffman‐Zacharska, D., Fitzpatrick, D., Harrison, V., Vasudevan, P., Joss, S., Pilz, D. T., Fawcett, K. A., Helbig, I., Matsumoto, N., Kearney, J. A., Fry, A. E., & Goldberg, E. M.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Northwestern University (US)
- Vrije Universiteit Brussel (BE)
- Université Libre de Bruxelles (BE)
- Child Neurology Heilig Hart Hospital Lier Lier Belgium
- Centre Hospitalier Universitaire de Liège (BE)
- Meyer Children's Hospital (IT)
- Yokohama City University Medical Center (JP)
- Yokohama City University (JP)
- Tel Aviv University (IL)
- Inova Health System (US)
- Children's National (US)
- University of Cape Town (ZA)
- Columbia University Irving Medical Center (US)
- Instytut Matki i Dziecka (PL)
- Institute of Genetics and Cancer (GB)
- Princess Anne Hospital (GB)
- National Health Service (GB)
- Queen Elizabeth University Hospital (GB)
- John Radcliffe Hospital (GB)
- University Hospital of Wales (GB)
- Corresponding author
- Goldberg, Ethan M.
- ORCID
- Zaman, Tariq
- Helbig, Katherine L.
- Clatot, Jérôme
- Thompson, Christopher H.
- Kang, Seok Kyu
- Stouffs, Katrien
- Jansen, Anna E.
- Jacquinet, Adeline
- Parrini, Elena
- Guerrini, Renzo
- Miyatake, Satoko
- Ben‐Zeev, Bruria
- Bassan, Haim
- Reish, Orit
- Marom, Daphna
- Vu, Thuy‐Anh
- Spencer, Careni E.
- Lippa, Natalie
- Charzewska, Agnieszka
- Hoffman‐Zacharska, Dorota
- Fitzpatrick, David
- Vasudevan, Pradeep
- Joss, Shelagh
- Fawcett, Katherine A.
- Helbig, Ingo
- Matsumoto, Naomichi
- Kearney, Jennifer A.
- Fry, Andrew E.
- Goldberg, Ethan M.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2020-07-09
- Volume
- 88
- Issue
- 2
- Pages
- 348-362
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC8552104
- OpenAlex
- W3034006522
- Cited by
- 94
- References
- 48
- Citations by year
- 2026: 13 · 2025: 17 · 2024: 23 · 2023: 10 · 2022: 13 · 2021: 15 · 2020: 3
- FWCI
- 7.48
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Florence Research (University of Florence) (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- Burroughs Wellcome Fund (Career Award for Medical Scientists)
- European Cooperation in Science and Technology (Action 16118 (European Network on Brain Malformati)
- Japan Agency for Medical Research and Development (JP18kk020501, JP19dm0107090, JP19ek0109280, JP19ek0109301, JP19ek0109348)
- Japan Society for the Promotion of Science (JP17H01539, JP17K10080)
- March of Dimes Foundation (Basil O'Connor Research Award)
- National Institute of Neurological Disorders and Stroke (K08 NS097633)
- 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 › Genetics and Neurodevelopmental Disorders
- Keywords
- SCN3A, childhood-onset epilepsy, malformations of cortical development, neurodevelopmental disorders, pathogenic variants, gain-of-function, loss of function, developmental delay, intellectual disability, persistent sodium current, voltage dependence of activation, channelopathies
- MeSH terms
- Adolescent, Adult, Brain, Child, Child, Preschool, Epilepsy, Female, Fetus, Humans, Infant, Male, Genetic Variation, Sodium Channels, HEK293 Cells, NAV1.3 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders
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