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   Articles with "scn2a" as a keyword



THE CONNECTION BETWEEN AUTISM SPECTRUM DISORDER AND THE SCN2A AND RENL GENES

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recommendations! Published in 2021 at "Cytotherapy"

DOI: 10.1016/j.jcyt.2021.02.101

Abstract: Background The incidence of autistic spectrum disorder (ASD) is growing, but the pathophysiology and the etiology is still uncertain. This disorder is caused by genetic and environmental factors causality, with the SCN2A and RELN genes… read more here.

Keywords: im5; reln; spectrum disorder; disorder ... See more keywords

NaV1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age

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recommendations! Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-49392-7

Abstract: Mutations of the SCN2A gene, encoding the voltage gated sodium channel NaV1.2, have been associated to a wide spectrum of epileptic disorders ranging from benign familial neonatal-infantile seizures to early onset epileptic encephalopathies such as… read more here.

Keywords: scn2a mice; knock mice; autistic like; scn2a ... See more keywords

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy

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recommendations! Published in 2024 at "Brain"

DOI: 10.1093/brain/awae213

Abstract: Abstract SCN2A gene-related early-infantile developmental and epileptic encephalopathy (EI-DEE) is a rare and severe disorder that manifests in early infancy. SCN2A mutations affecting the fast inactivation gating mechanism can result in altered voltage dependence and… read more here.

Keywords: fast inactivation; nav1 channel; scn2a; inactivation ... See more keywords

Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

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recommendations! Published in 2021 at "JCI Insight"

DOI: 10.1172/jci.insight.150698

Abstract: SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, is one of the most commonly affected loci linked to autism spectrum disorders (ASDs). Most ASD-associated mutations in SCN2A are loss-of-function mutations, but studies examining how such… read more here.

Keywords: voltage gated; scn2a; scn2a 1898; synaptic input ... See more keywords

Neuropathologic Findings in Lennox-Gastaut Syndrome (SCN2A-Related): A Case Report and Review of Literature

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recommendations! Published in 2025 at "Pediatric and Developmental Pathology"

DOI: 10.1177/10935266251345684

Abstract: Lennox-Gastaut syndrome is a form of severe childhood epilepsy caused by a variety of etiologies including structural abnormalities, inflammatory conditions affecting the brain, malignancy, injury, or unknown causes. Sodium channelopathies have been linked to multiple… read more here.

Keywords: neuropathologic findings; findings lennox; lennox gastaut; case ... See more keywords

Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder

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recommendations! Published in 2024 at "Journal of Neurodevelopmental Disorders"

DOI: 10.1186/s11689-024-09580-7

Abstract: This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e.,… read more here.

Keywords: treatment; challenging behavior; cvi; vision ... See more keywords

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

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recommendations! Published in 2018 at "BMC Psychiatry"

DOI: 10.1186/s12888-018-1822-8

Abstract: BackgroundMutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region… read more here.

Keywords: scn2a scn3a; etiology; scn2a; case ... See more keywords

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

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recommendations! Published in 2022 at "European journal of medical genetics"

DOI: 10.2139/ssrn.4191812

Abstract: Variants in SCN2A, encoding the voltage-gated sodium channel Nav1.2, are commonly associated with developmental and epileptic encephalopathy. Although animal studies demonstrated a role for Nav1.2 in intraventricular conduction, heart anomalies have been only occasionally described… read more here.

Keywords: potential correlation; scn2a; arrhythmia potential; report ... See more keywords