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• W2006833313 abstract "<h3>Objective</h3> To characterize a novel<i>SCN1A</i>mutation in a proband with malignant migrating partial seizures of infancy. <h3>Design</h3> Genomic DNA was isolated from blood and submitted for commercial testing. The identified missense mutation was confirmed in brain DNA obtained at autopsy. Genomic DNA from the brain of the proband was analyzed by comparative genome hybridization, and the coding exons of<i>SCN9A</i>were amplified. Quantitation studies of the mutant transcript were performed. <h3>Setting</h3> Children’s National Medical Center and Yale University School of Medicine. <h3>Proband</h3> A full-term female infant who experienced seizure onset at age 10 weeks, with progression of hemiclonic, apneic, and multifocal migrating partial seizures leading to recurrent status epilepticus and death at age 9 months. <h3>Main Outcome Measures</h3> Electroencephalographic and magnetic resonance imaging results, quantitative RNA expression, and secondary mutation test results. <h3>Results</h3> The heterozygous missense mutation c.C5006C>A was identified by sequencing genomic DNA from blood and was confirmed in brain DNA. The resulting amino acid substitution p.A1669E alters an evolutionarily conserved residue in an intracellular linker of domain 4 of the<i>SCN1A</i>sodium channel protein Na_v1.1. The mutant transcript is found to be expressed at levels comparable to the wild-type allele in brain RNA. No variation in copy number was detected in the chromosome region 2q24 containing<i>SCN1A</i>or elsewhere in the genome. No mutations were detected in the linked sodium channel gene<i>SCN9A</i>, which has been reported to act as a modifier of<i>SCN1A</i>mutations. <h3>Conclusion</h3> This report expands the spectrum of<i>SCN1A</i>epileptic channelopathies to include malignant migrating partial seizures of infancy." @default.
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• W2006833313 date "2011-05-01" @default.
• W2006833313 modified "2023-10-01" @default.
• W2006833313 title "Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy" @default.
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• W2006833313 doi "https://doi.org/10.1001/archneurol.2011.98" @default.
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