Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

CONCLUSIONS: Our study describes the heterogeneous clinical spectrum of SCN2A-associated EA, identifies two mutational hotspots and shows positive effects of acetazolamide in about 50%.
PMID: 30928199 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - March 6, 2019 Category: Neurology Authors: Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W Tags: Eur J Paediatr Neurol Source Type: research