1. Episodic ataxia associated with a de novo SCN2A mutation
- Author
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William T. Gibson, Katelin N. Townsend, Juliette Hukin, Maja Tarailo-Graovac, Emma L. Leach, Clara D.M. van Karnebeek, and Other departments
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Male ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Ataxia ,Adolescent ,Encephalopathy ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Global developmental delay ,Exome sequencing ,Episodic ataxia ,Dystonia ,NAV1.2 Voltage-Gated Sodium Channel ,business.industry ,Genetic heterogeneity ,General Medicine ,medicine.disease ,Hypotonia ,Acetazolamide ,030104 developmental biology ,Mutation ,Pediatrics, Perinatology and Child Health ,Anticonvulsants ,Neurology (clinical) ,medicine.symptom ,business ,Neuroscience ,030217 neurology & neurosurgery - Abstract
Introduction: Episodic ataxia (EA) is characterized by paroxysmal attacks of ataxia interspersed by asymptomatic periods. Dominant mutations or copy number variants in CACNA1A are a well-known cause of EA. Clinical presentation: This boy presented with clinical features of episodic ataxia, and also showed cerebellar atrophy, hypotonia, autism and global developmental delay at age 4 years. Acetazolamide prevented further episodes of ataxia, dystonia and encephalopathy. Extensive biochemical and genetic tests were unrevealing; whole exome sequencing found a previously unreported variant in SCN2A, proven to be de novo and predicted to be protein damaging. Conclusion: Considered alongside previous reports of episodic ataxia in SCN2A mutation positive patients, our case further illustrates the genetic heterogeneity of episodic ataxia. In addition, this case suggests that acetazolamide may be an effective treatment for some aspects of the phenotype in a broader range of channelopathy-related conditions. (C) 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved
- Published
- 2016
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