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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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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Dravet syndrome occurs from loss of function of SCN1A, which encodes the α-subunit of the voltage-gated sodium channel NaV1.1, prominently expressed in the soma and axon initial segment of neurons.
“DS occurs from loss of function of SCN1A, which encodes the α-subunit of the voltage-gated sodium channel NaV1.1, prominently expressed in the soma and axon initial segment of neurons (Cheah et al., 2012).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Cheah et al., 2012
In mouse models of Dravet syndrome cortical interneurons cannot sustain high-frequency firing, leading to circuit disinhibition, seizures, and premature death.
“In mouse models of Dravets syndrome cortical interneurons cannot sustain high-frequency firing, leading to circuit disinhibition, seizures, and premature death (194, 852).”
From Hippocampal GABAergic Inhibitory Interneurons (2017) · cites this paper as [194]
Haploinsufficiency or pathogenic variants of Scn1a cause Dravet Syndrome, a common intractable epileptic encephalopathy with early onset seizures.
“Haploinsufficiency or pathogenic variants of Scn1a cause Dravet Syndrome, a common and intractable form of epileptic encephalopathy characterized by the early onset of seizures17–19.”
From Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans (2020) · cites this paper as [17]
Loss of Scn1a expression is especially associated with PV cIN dysfunction.
“As loss of expression of Scn1a is especially associated with PV cIN disfunction15–19”
From Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans (2020) · cites this paper as [17]
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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
- 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
- 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 › Psychiatry and Mental health › 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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