Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Roman PraschbergerBettina BalintNiccolo E MencacciJoshua HershesonIgnacio Rubio-AgustiDimitri M KullmannConceicao BettencourtKailash BhatiaHenry HouldenPublished in: Movement disorders clinical practice (2015)
This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.