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SCN1A‐related phenotypes: Epilepsy and beyond
Open accessAbstract
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). SCN1A disorders also result in other diseases such as hemiplegic migraine and autism spectrum disorder (ASD). Dravet syndrome (DS) is the prototypic DEE with an early onset of febrile status epilepticus, hemiclonic or generalized tonic‐clonic seizures, and later onset of additional seizure types. Electroencephalography (EEG) and magnetic resonance imaging (MRI) are normal at onset. Development is normal in the first year of life but plateaus rapidly, with most patients ultimately having intellectual disability. Epilepsy is drug‐resistant and necessitates polytherapy. Most pathogenic variants occur de novo in the affected child, but they are inherited from mosaic affected or unaffected parents in rare cases. The molecular finding of haploinsufficiency is consistent with a loss‐of‐function defect in cells and animal models. Although seizures are the most commonly reported symptom in DS, many additional issues critically affect patients’ cognitive and behavioral functioning. Hemiplegic migraine (HM) is a rare form of migraine with aura, characterized by the emergence of hemiparesis as part of the aura phase. All SCN1A mutations reported in sporadic/familial HM3 are missense mutations. Most of the experimental results show that they cause a gain of function of Na V 1.1 as opposed to the loss of function of the epileptogenic Na V 1.1 mutations. SCN1A and SCN2A pathogenic variants have been identified in genetic studies of cohorts of patients with ASD. In addition, ASD features are often reported in patients with Dravet syndrome and other DEEs.
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“SCN1A again provides a good example with Dravet syndrome arising due to LOF pathogenic variants 169 , and GOF pathogenic variants causing a profound Early Infantile DEE with an expanded phenotypic spectrum 32,33 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [169]
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CRISPR-Based Gene Editing Techniques in Pediatric Neurologic Disorders
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“Dravet syndrome (DS) is a severe childhood-onset epilepsy syndrome, related to a genetic mutation of the sodium channel alpha-1 subunit [1].”
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“We targeted SCN1a, which is translated into the voltage-gated sodium channel Na V 1.1, and whose haploinsufficiency results in Dravet syndrome (DS), a severe, early-onset developmental and epileptic encephalopathy (DEE) [ 23 –25 ].”
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“SCN1A gene mutations have been linked to the abnormal structure and function of sodium ion channels and excitability changes in neurons, which are recognized as causes of epilepsy [ 35].”
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Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders
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“Notably, a missense mutation in the SCN1A exonic region (SCN1A rs2298771) results in the substitution of threonine with alanine through a G to A base change [6].”
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“34 Upon analyzing the VUSs reported, we observed that the SCN9A (NM_002977 codon 711 of the SCN9A protein (rs772492538, gno-mAD 0.003%, ExAc 0.002% PolyPhen-2 prediction: Probably Damaging 35 ) potentially altering the function of the Nav.17 sodium channel, leading to signal disruptions.”
InfluentialCharacteristic spatial and frequency distribution of mutations in SCN1A
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“SCN1A mutations have different functional impacts, including loss of function (LOF), partial loss of function, decreased excitability, increased excitability, and gain of function (GOF) [3, 18].”
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“them are inherited as an autosomal dominant pattern [42].”
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“However, a diagnosis of DS should not be made on the basis of positive gene mutation test results, and, conversely, a diagnosis of DS should not be ruled out in the absence of gene mutations [14].”
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“In particular, mutations in sodium channel genes such as SCN1A and SCN8A play an important role in the pathophysiology of epilepsy (Scheffer & Nabbout, 2019).”
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FEBRİL KONVÜLZİYONLU ÇOCUKLARDA RİSK FAKTÖRLERİNİN DEĞERLENDİRİLMESİ
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multidisciplinaire polikliniek voor kinderen met het Dravetsyndroom
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Metadata
- Authors
- Scheffer, I. E., & Nabbout, R.
- Affiliations
- Royal Children's Hospital (AU)
- Hôpital Necker-Enfants Malades (FR)
- Corresponding author
- Nabbout, Rima
- Venue
- Epilepsia
- Publisher
- Wiley
- Published
- 2019-12
- Volume
- 60
- Issue
- S3
- Pages
- S17-S24
- ISSN
- 0013-9580 (ISSN-L)
- 1528-1167
- OpenAlex
- W3000653518
- Cited by
- 245
- References
- 66
- Citations by year
- 2026: 20 · 2025: 42 · 2024: 49 · 2023: 39 · 2022: 43 · 2021: 43 · 2020: 9
- FWCI
- 3.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Epilepsia (publishedVersion)
- PubMed (publishedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Keywords
- SCN1A, Nav1.1 sodium channel, Dravet syndrome, developmental and epileptic encephalopathy, genetic epilepsy with febrile seizures plus, hemiplegic migraine, autism spectrum disorder, haploinsufficiency, loss-of-function mutations, gain-of-function mutations, drug-resistant epilepsy, intellectual disability, phenotypic spectrum, de novo mutations, SCN2A
- MeSH terms
- Autism Spectrum Disorder, Epileptic Syndromes, Animals, Seizures, Febrile, Epilepsy, Epilepsies, Myoclonic, Humans, Mutation, NAV1.1 Voltage-Gated Sodium Channel
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