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Article

Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).

Pediatric neurology - 1 Oct 2007

Dlugos Dennis J, Ferraro Thomas N, Buono Russell J

Abstract excerpt

We report on the case of a 6-year-old boy with epilepsy involving febrile seizures and unprovoked generalized tonic clonic seizures. Genetic testing revealed a novel de novo mutation in the SCN1A gene (C>T 4786, R1596C). The epilepsy phenotype is within the spectrum of generalized epilepsy with febrile seizures plus. However, de novo mutations are more commonly reported in cases of severe myoclonic epilepsy of...

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Source

Identifiers

PMID: 17903680
DOI: 10.1016/j.pediatrneurol.2007.06.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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