Neonatal and Pediatric Medicine
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Sablonniere B
Biography
Sablonniere is working in Lille University of Science and Technology, UMR-S 1172, JPArc, Centre de Recherches Jean-Pierre Aubert and CHU Lille, UF Neurobiologie, F-59000, Lille, France. His international experience includes various programs, contributions and participation in different countries for diverse fields of study. He is the Editorial Board Member of Journal and serves as a member of various associations, apart from being an author for many books.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, Dhaenens C and Vallee L
Research Article: Neonat Pediatr Med 2015, 1: S1004
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