en
Scientific article
English

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Published inEuropean Journal of Paediatric Neurology, vol. 23, no. 3, p. 438-447
Publication date2019
Abstract

Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability. Few reports have recently described SCN2A-associated episodic ataxia (EA). Our study identifies its broader clinical and genetic spectrum, and describes pharmacological approaches.

Keywords
  • Acetazolamide
  • Epilepsy
  • Episodic ataxia
  • SCN2A
Citation (ISO format)
SCHWARZ, N et al. Clinical and genetic spectrum of SCN2A-associated episodic ataxia. In: European Journal of Paediatric Neurology, 2019, vol. 23, n° 3, p. 438–447. doi: 10.1016/j.ejpn.2019.03.001
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Article (Published version)
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Identifiers
ISSN of the journal1090-3798
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Technical informations

Creation10/28/2020 2:03:00 PM
First validation10/28/2020 2:03:00 PM
Update time03/15/2023 11:41:02 PM
Status update03/15/2023 11:41:01 PM
Last indexation01/17/2024 11:54:03 AM
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