Cited by 336Epilepsy research and treatmentIon channel regulation and functionNeuroscience and Neuropharmacology Research

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Specific deletion of Na V 1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

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Cheah, Christine S., Yu, Frank H., Westenbroek, Ruth E., Kalume, Franck K., Oakley, John C., Potter, Gregory B., Rubenstein, John L., Catterall, William A.·2012·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1211591109PMC PMC3437823

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Abstract

Heterozygous loss-of-function mutations in the brain sodium channel Na V 1.1 cause Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of cognitive impairment and premature death. Previous studies using a mouse model of DS revealed reduced sodium currents and impaired excitability in GABAergic interneurons in the hippocampus, leading to the hypothesis that impaired excitability of GABAergic inhibitory neurons is the cause of epilepsy and premature death in DS. However, other classes of GABAergic interneurons are less impaired, so the direct cause of hyperexcitability, epilepsy, and premature death has remained unresolved. We generated a floxed Scn1a mouse line and used the Cre-Lox method driven by an enhancer from the Dlx 1,2 locus for conditional deletion of Scn1a in forebrain GABAergic neurons. Immunocytochemical studies demonstrated selective loss of Na V 1.1 channels in GABAergic interneurons in cerebral cortex and hippocampus. Mice with this deletion died prematurely following generalized tonic-clonic seizures, and they were equally susceptible to thermal induction of seizures as mice with global deletion of Scn1a . Evidently, loss of Na V 1.1 channels in forebrain GABAergic neurons is both necessary and sufficient to cause epilepsy and premature death in DS.

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Authors: Cheah, C. S., Yu, F. H., Westenbroek, R. E., Kalume, F. K., Oakley, J. C., Potter, G. B., Rubenstein, J. L., & Catterall, W. A.
Affiliations: Department of Pharmacology and
Seoul National University (KR)
University of Washington (US)
University of California, San Francisco (US)
ORCID: Cheah, Christine S.
Yu, Frank H.
Kalume, Franck K.
Potter, Gregory B.
Rubenstein, John L.
Catterall, William A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2012-08-20
Volume: 109
Issue: 36
Pages: 14646-14651
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1211591109
PMC: PMC3437823
OpenAlex: W2159213224
Cited by: 336
References: 28
Citations by year: 2026: 17 · 2025: 23 · 2024: 32 · 2023: 26 · 2022: 23 · 2021: 42 · 2020: 21 · 2019: 28 · 2018: 16 · 2017: 19 · 2016: 24 · 2015: 20 · 2014: 21 · 2013: 23 · 2012: 1
FWCI: 14.62
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: McKnight Foundation
National Research Foundation
National Research Foundation of Korea
National Institutes of Health (MH049428)
National Institute of Mental Health (R37MH049428)
National Institute of Neurological Disorders and Stroke (R01NS025704)
Topics: Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords: Dravet syndrome, Nav1.1 sodium channel, SCN1A, GABAergic interneurons, conditional knockout, epilepsy, premature mortality, seizures, hippocampus, cerebral cortex, tonic-clonic seizures
MeSH terms: Animals, Electrocardiography, Electroencephalography, Epilepsies, Myoclonic, Hippocampus, Immunohistochemistry, Interneurons, Mice, Transgenic, Mutation, Plasmids, Prosencephalon, Mice, NAV1.1 Voltage-Gated Sodium Channel

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Specific deletion of Na V 1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

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