Episodic ataxia associated with a de novo SCN2A mutation

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, an...

Full description

Saved in:
Bibliographic Details
Published in:European journal of paediatric neurology 2016-09, Vol.20 (5), p.772-776
Main Authors: Leach, Emma L, van Karnebeek, Clara D.M, Townsend, Katelin N, Tarailo-Graovac, Maja, Hukin, Juliette, Gibson, William T
Format: Article
Language:English
Subjects:
Acetazolamide
Acetazolamide - therapeutic use
Adolescent
Anticonvulsants - therapeutic use
Ataxia - drug therapy
Ataxia - genetics
Cerebellar atrophy
Channelopathy
Episodic ataxia
Humans
Male
Mutation
NAV1.2 Voltage-Gated Sodium Channel - genetics
Neurology
Pediatrics
SCN2A
Treatment
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2016.05.020