Details

Autor(en) / Beteiligte

• Leach, Emma L., MSc
• van Karnebeek, Clara D.M., MD, PhD, FCCMG
• Townsend, Katelin N., MSc
• Tarailo-Graovac, Maja, PhD
• Hukin, Juliette, MB-BS, FRCPC
• Gibson, William T., MD, PhD, FRCPC, FCCMG

Titel

Episodic ataxia associated with a de novo SCN2A mutation

Ist Teil von

• European journal of paediatric neurology, 2016-09, Vol.20 (5), p.772-776

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2016

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 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.