Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response https://www.medrxiv.org/content/10.1101/2023.07.30.23293380
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response https://www.medrxiv.org/content/10.1101/2023.07.30.23293380