Cited by 345Epilepsy research and treatmentIon channel regulation and functionPharmacological Effects and Toxicity Studies

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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

Fujiwara, T.·2003·Brain

DOI 10.1093/brain/awg053

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Abstract

A group of infant onset epilepsies manifest very frequent generalized tonic-clonic seizures (GTC) intractable to medical therapy, which may or may not be accompanied by minor seizures such as myoclonic seizures, absences and partial seizures. They include severe myoclonic epilepsy in infancy (SMEI) and intractable childhood epilepsy with GTC (ICEGTC). They are commonly associated with fever-sensitivity, family history of seizure disorders and developmental decline after seizure onset. Mutations of the neuronal voltage-gated sodium channel alpha subunit type 1 gene (SCN1A) were recently reported in SMEI patients. To clarify the genotypic differences in this group of epilepsies, we searched for SCN1A abnormalities in 25 patients with SMEI and 10 with ICEGTC, together with the family members of 15 patients. Frameshift mutations in SCN1A were observed in four patients, nonsense mutations in five patients, missense mutations in 21 patients, other mutations in two patients and no mutation in five patients. SMEI patients showed nonsense mutations, frameshifts, or missense mutations, while ICEGTC patients showed only missense mutations. Study of both parents of 11 patients revealed that the mutations in these patients were de novo. However, two mothers had the same missense mutations as their ICEGTC children, and they had generalized epilepsy with febrile seizures plus. Here we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.

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Untitled work
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Background
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Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Teralı, K., Türkyılmaz, A., Sağer, S. G., & Çebi, A. H. (2023) · Clinical and Translational Science · doi:10.1111/cts.13679 · Cited by 2
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Dam, V. V., & Korff, C. M. (2013) · Schweizer Archiv für Neurologie und Psychiatrie · doi:10.4414/sanp.2013.00174 · Cited by 2
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Powell, G. A., & Marson, A. G. (2020) · Cambridge University Press eBooks · doi:10.1017/9781316492376.016 · Cited by 2
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Aur, D. (2010) · Nature Precedings · doi:10.1038/npre.2010.5398.1 · Cited by 3
“…(Chu et al., 2010) decreased inhibitory neurotransmission (Turnbull et al., 2005), alteration in voltage-gated ion channels (Claes et al., 2001; Fujiwara et al., 2003; Wallace et al., 1998; Escayg and Goldin, 2010) complex changes in the neurochemistry of glutamate metabolism (e.g.…”
Background
Epilepsia mioclónica grave de la infancia (síndrome de Dravet). Aspectos genéticos
Herranz, J. L. (2003) · Revista de Neurología · doi:10.33588/rn.3701.2003227 · Cited by 2
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Loss or Gain of Function? Effects of Ion Channel Mutations on Neuronal Firing Depend on the Cell TypePreprint
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Background
Genetic analysis of human absence epilepsy
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The clinical and genetic epidemiology of pediatric idiopathic epilepsy in Newfoundland and Labrador
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Authors: Fujiwara, T.
Affiliations: National Epilepsy Center (JP)
Corresponding author: Fujiwara, T.
Venue: Brain
Publisher: Oxford University Press (OUP)
Published: 2003-03-01
Volume: 126
Issue: 3
Pages: 531-546
ISSN: 0006-8950 (ISSN-L)
1460-2156
DOI: 10.1093/brain/awg053
OpenAlex: W2161749769
Cited by: 345
References: 32
Citations by year: 2026: 2 · 2025: 4 · 2024: 5 · 2023: 8 · 2022: 7 · 2021: 13 · 2020: 36 · 2019: 6 · 2018: 5 · 2017: 10 · 2016: 11 · 2015: 14 · 2014: 19 · 2013: 19 · 2012: 12
FWCI: 13.67
Type: journal article
Language: en
Open access: closed
Locations: Brain (publishedVersion)
PubMed (publishedVersion)
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, Dravet syndrome, generalized tonic-clonic seizures, missense mutations, frameshift mutation, nonsense mutation, de novo mutations, generalized epilepsy with febrile seizures plus, genotype-phenotype correlation, infantile epilepsy
MeSH terms: Adolescent, Adult, Body Temperature, Child, Child, Preschool, Seizures, Febrile, DNA Mutational Analysis, Epilepsy, Tonic-Clonic, Epilepsies, Myoclonic, Female, Heterozygote, Humans, Male, Nerve Tissue Proteins, Sodium Channels, Frameshift Mutation, Mutation, Missense, NAV1.1 Voltage-Gated Sodium Channel

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Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

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