Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N; Bast, T; Gaily, E; Golla, G; Gorman, K M; Griffiths, L R; Hahn, A; Hukin, J; King, M; Korff, Christian; Miranda, M J; Møller, R S; Neubauer, B; Smith, R A; Smol, T; Striano, P; Stroud, B; Vaccarezza, M; Kluger, G; Lerche, H; Fazeli, W

doi:10.1016/j.ejpn.2019.03.001

Scientific article

English

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

ContributorsSchwarz, N; Bast, T; Gaily, E; Golla, G; Gorman, K M; Griffiths, L R; Hahn, A; Hukin, J; King, M; Korff, Christian

; Miranda, M J; Møller, R S; Neubauer, B; Smith, R A; Smol, T; Striano, P; Stroud, B; Vaccarezza, M; Kluger, G; Lerche, H; Fazeli, W

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

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

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

Article (Published version)

Identifiers

PID : unige:146026
DOI : 10.1016/j.ejpn.2019.03.001
PMID : 30928199

Journal ISSN1090-3798

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Clinical and genetic spectrum of SCN2A-associated episodic ataxia

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