Journal of Pediatric Neurological Disorders
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Sablonniere B
France
Publications
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, Dhaenensq C and Vallee L
Review Article: J Pediatr Neurol Disord
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