Cited by 199Epilepsy research and treatmentIon channel regulation and functionCardiac electrophysiology and arrhythmias

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A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

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Kamiya, Kazusaku, Kaneda, Makoto, Sugawara, Takashi, Mazaki, Emi, Okamura, Nami, Montal, Mauricio, Makita, Naomasa, Tanaka, Masaki, Fukushima, Katsuyuki, Fujiwara, Tateki, Inoue, Yushi, Yamakawa, Kazuhiro·2004·The Journal of Neuroscience

DOI 10.1523/jneurosci.3089-03.2004PMC PMC6729532

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Abstract

Mutations, exclusively missense, of voltage-gated sodium channel α subunit type 1 (SCN1A) and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized epilepsy with febrile seizures plus. Nonsense and frameshift mutations of SCN1A, by contrast, were identified in intractable epilepsy: severe myoclonic epilepsy in infancy (SMEI). Here we describe a first nonsense mutation of SCN2A in a patient with intractable epilepsy and severe mental decline. The phenotype is similar to SMEI but distinct because of partial epilepsy, delayed onset (1 year 7 months), and absence of temperature sensitivity. A mutational analysis revealed that the patient had a heterozygous de novo nonsense mutation R102X of SCN2A. Patch-clamp analysis of Na v 1.2 wild-type channels and the R102X mutant protein coexpressed in human embryonic kidney 293 cells showed that the truncated mutant protein shifted the voltage dependence of inactivation of wild-type channels in the hyperpolarizing direction. Analysis of the subcellular localization of R102X truncated protein suggested that its dominant negative effect could arise from direct or indirect cytoskeletal interactions of the mutant protein. Haploinsufficiency of Na v 1.2 protein is one plausible explanation for the pathology of this patient; however, our biophysical findings suggest that the R102X truncated protein exerts a dominant negative effect leading to the patient's intractable epilepsy.

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Authors: Kamiya, K., Kaneda, M., Sugawara, T., Mazaki, E., Okamura, N., Montal, M., Makita, N., Tanaka, M., Fukushima, K., Fujiwara, T., Inoue, Y., & Yamakawa, K.
Affiliations: RIKEN (JP)
Keio University (JP)
University of California San Diego (US)
Hokkaido University (JP)
RIKEN Center for Brain Science (JP)
National Epilepsy Center (JP)
Corresponding author: Yamakawa, Kazuhiro
ORCID: Kaneda, Makoto
Sugawara, Takashi
Montal, Mauricio
Makita, Naomasa
Tanaka, Masaki
Inoue, Yushi
Yamakawa, Kazuhiro
Venue: The Journal of Neuroscience
Publisher: Society for Neuroscience
Published: 2004-03-17
Volume: 24
Issue: 11
Pages: 2690-2698
ISSN: 0270-6474 (ISSN-L)
1529-2401
DOI: 10.1523/jneurosci.3089-03.2004
PMC: PMC6729532
OpenAlex: W2096680774
Cited by: 199
References: 49
Citations by year: 2026: 2 · 2025: 5 · 2024: 1 · 2023: 7 · 2022: 5 · 2021: 10 · 2020: 7 · 2019: 13 · 2018: 10 · 2017: 9 · 2016: 9 · 2015: 11 · 2014: 20 · 2013: 11 · 2012: 10
FWCI: 6.22
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-sa
creativecommons.org/licenses/by-nc-sa/4.0/ (vor, 184 d)
Locations: Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Keio University
National Institutes of Health
RIKEN
National Institute of General Medical Sciences (GM-49711, R01GM049711)
RIKEN Brain Science Institute
Topics: Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Keywords: SCN2A, nonsense mutation, drug-resistant epilepsy, intellectual disability, Dravet syndrome, de novo mutations, dominant negative effect, haploinsufficiency, voltage-gated sodium channels, voltage-dependent inactivation, subcellular localization, cytoskeletal interactions, focal epilepsy
MeSH terms: Adult, Autistic Disorder, Cell Line, DNA Mutational Analysis, Electroencephalography, Epilepsy, Female, Genes, Dominant, Humans, Hyperkinesis, Kidney, Intellectual Disability, Nerve Tissue Proteins, Pedigree, Transfection, Sodium Channels, Gene Expression, Codon, Nonsense, Patch-Clamp Techniques, Protein Subunits, NAV1.2 Voltage-Gated Sodium Channel

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A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

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