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Genet A | OMICS International
ISSN: 2572-4983

Neonatal and Pediatric Medicine
Open Access

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Genet A

France
Publications

A Novel SCN9A Gene Mutation in a Patient with Carbamazepine-Resistant Paroxysmal Extreme Pain Disorder

Paroxysmal extreme pain disorder is an autosomal dominant disorder caused by mutation of the SCN9A gene. In most cases, the pain is relieved by carbamazepine. We report on a novel SCN9A mutation associated with carbamazepine-resistant. The proband was a 7-month-old child who suffered from typical attacks from birth onwards. Sequencing of SCN9A reve... Read More»

Sablonniere B, Huin V, Cuvellier J, Genet A, Dhaenens C and Vallee L

Research Article: Neonat Pediatr Med 2015, 1: S1004

DOI: 10.4172/2572-4983.1000S1004

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article

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