Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Giovanna De MicheleDaniele GalatoloSerena GalosiAndrea MignarriGabriella SilvestriCarlo CasaliVincenzo LeuzziIvana RiccaMelissa BarghigianiAlessandra TessaEttore CioffiCaterina CaputiVittorio RisoMaria Teresa DottiFrancesco SaccàGiuseppe De MicheleSirio CocozzaAlessandro FillaFilippo M Santorelli

Published in: Journal of neurology (2021)

Our study broadens the genetic and clinical spectrum of SCA14.

Keyphrases

early onset
genome wide
copy number
gene expression