Neuron
 2018
DOI: 10.1016/j.neuron.2018.07.052
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Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Richard S. Smith
1
,
Connor Kenny
2
,
Vijay Ganesh
3
et al.

Abstract: Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel Na1.3. Pathogenic Na1.3 channels showed altered biophysical properties including increased persistent current. Remarkably, affected individuals showed disrupted folding (polymicrogyria) of the perisylvian cortex of the brain but did not typically exhibit epi… Show more

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Cited by 156 publications

(160 citation statements)
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“…The channel exhibits typical voltagedependent activation and steady-state fast inactivation with V 1/2 of −18.8 ± 0.4 mV and −45.4 ± 1.2 mV, respectively (Fig. 1a), consistent with previous reports 8,39,40 . The human Na V 1.3 and β1/β2 were further co-expressed in HEK293 cells at large scale and purified to homogeneity in detergents (Supplementary Fig.…”
Section: Resultssupporting
confidence: 91%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…The channel exhibits typical voltagedependent activation and steady-state fast inactivation with V 1/2 of −18.8 ± 0.4 mV and −45.4 ± 1.2 mV, respectively (Fig. 1a), consistent with previous reports 8,39,40 . The human Na V 1.3 and β1/β2 were further co-expressed in HEK293 cells at large scale and purified to homogeneity in detergents (Supplementary Fig.…”
Section: Resultssupporting
confidence: 91%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…Surprisingly, several genes linked to neuronal excitability are expressed in IPs ( Figures 6E–G ). This finding intersects with a recent report that SCN3A , a voltage-gated sodium channel, is expressed in IPs and is required for cortical morphogenesis ( Smith et al, 2018 ). What role might IP excitability play in cortical development?…”
Section: Discussionsupporting
confidence: 91%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
“…As these genes are associated with clinical phenotypes unrelated to polymicrogyria, we considered the variants to be VUSs. Our findings add to emerging reports implicating ion channel genes in the pathogenesis of polymicrogyria (e.g., SCN3A and GRIN2D 38–41 ). Finally, we identified one patient with polymicrogyria and epilepsy with a deletion at 15q25.2.…”
Section: Discussionsupporting
confidence: 84%
Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task.
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