Cited by 643Epilepsy research and treatmentGenetics and Neurodevelopmental DisordersIon channel regulation and function

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Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission

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Han, Sung, Tai, Chao, Westenbroek, Ruth E., Yu, Frank H., Cheah, Christine S., Potter, Gregory B., Rubenstein, John L., Scheuer, Todd, de la Iglesia, Horacio O., Catterall, William A.·2012·Nature

DOI 10.1038/nature11356PMC PMC3448848

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Abstract

Haploinsufficiency of the SCN1A gene encoding voltage-gated sodium channel Na(V)1.1 causes Dravet's syndrome, a childhood neuropsychiatric disorder including recurrent intractable seizures, cognitive deficit and autism-spectrum behaviours. The neural mechanisms responsible for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome are poorly understood. Here we report that mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviours, social interaction deficits and impaired context-dependent spatial memory. Olfactory sensitivity is retained, but novel food odours and social odours are aversive to Scn1a(+/-) mice. GABAergic neurotransmission is specifically impaired by this mutation, and selective deletion of Na(V)1.1 channels in forebrain interneurons is sufficient to cause these behavioural and cognitive impairments. Remarkably, treatment with low-dose clonazepam, a positive allosteric modulator of GABA(A) receptors, completely rescued the abnormal social behaviours and deficits in fear memory in the mouse model of Dravet's syndrome, demonstrating that they are caused by impaired GABAergic neurotransmission and not by neuronal damage from recurrent seizures. These results demonstrate a critical role for Na(V)1.1 channels in neuropsychiatric functions and provide a potential therapeutic strategy for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome.

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Authors: Han, S., Tai, C., Westenbroek, R. E., Yu, F. H., Cheah, C. S., Potter, G. B., Rubenstein, J. L., Scheuer, T., de la Iglesia, H. O., & Catterall, W. A.
Affiliations: University of Washington (US)
University of California, San Francisco (US)
Corresponding author: Catterall, William A.
ORCID: Han, Sung
Yu, Frank H.
Cheah, Christine S.
Potter, Gregory B.
Rubenstein, John L.
Scheuer, Todd
Catterall, William A.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2012-08-22
Volume: 489
Issue: 7416
Pages: 385-390
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature11356
PMC: PMC3448848
OpenAlex: W2050659319
Cited by: 643
References: 47
Citations by year: 2026: 23 · 2025: 35 · 2024: 43 · 2023: 57 · 2022: 39 · 2021: 62 · 2020: 54 · 2019: 48 · 2018: 37 · 2017: 55 · 2016: 49 · 2015: 47 · 2014: 44 · 2013: 48 · 2012: 2
FWCI: 31.70
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: National Institute of Mental Health (R01MH075016, 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 › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Keywords: SCN1A, haploinsufficiency, GABAergic neurotransmission, GABAA receptor, clonazepam, social interaction deficits, hyperactivity, stereotypy, fear memory, spatial memory, interneurons, epilepsy, cognitive impairment
MeSH terms: Animals, Anxiety, Autistic Disorder, Clonazepam, Epilepsies, Myoclonic, gamma-Aminobutyric Acid, Heterozygote, Hippocampus, Hyperkinesis, Interneurons, Male, Memory, Nerve Tissue Proteins, Synaptic Transmission, Social Behavior, Space Perception, Syndrome, Transcription Factors, Sodium Channels, Homeodomain Proteins, GABA Modulators, Stereotypic Movement Disorder, Mice, Haploinsufficiency, GABAergic Neurons, NAV1.1 Voltage-Gated Sodium Channel

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