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

Journal of Pediatric Neurological Disorders
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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 revealed a heterozygous c.4880T>G substitution. Identification of this novel mutation and characterization of the associated carbamazepine-resistant phenotype may facilitate diagnosis and drug development.

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Author(s): Huin V, Cuvellier J, Genet A, Dhaenens C, Vallée L and Sablonnière B


Nerve pain, Mutation, Paroxysmal extreme pain disorder, Behavioral Psychology, Chiari malformation, Chronic Traumatic Encephalopathy, Congenital Brain Defects, Duchenne Muscular Dystrophy, Epilepsy and Seizures, Genetic and Metabolic Disorders, Genetic Epilepsies, Headaches and Migraines, Movement Disorders, Neonatal encephalopathy, Neurodevelopmental Disorders, Neurogenetic Disorders, Neurological Complications of AIDS, Neuromuscular Disease, Pediatric Brain Tumour, Pediatric Sleep Disorders, Stroke and Perinatal Injuries

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