Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature

Scott Strader; Rebecca Benson; Charuta Joshi

doi:10.3233/JPN-2011-0480

Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature

Scott Strader, Rebecca Benson, Charuta Joshi

Research output: Contribution to journal › Article › peer-review

Abstract

In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.

Original language	English (US)
Pages (from-to)	401-403
Number of pages	3
Journal	Journal of Pediatric Neurology
Volume	9
Issue number	3
DOIs	https://doi.org/10.3233/JPN-2011-0480
State	Published - 2011
Externally published	Yes

Keywords

Epilepsy
infantile
myoclonic

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.3233/JPN-2011-0480

Cite this

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title = "Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature",

abstract = "In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.",

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AB - In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.

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KW - myoclonic

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Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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