Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation.
Murat GültekinMuhammet Ensar DoganGulsah SimsirAyse Nazlı BasakPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
We concluded that family members with the same SLC2A1 gene mutation may show very heterogenous phenotypes. Clinicians should be aware of wide variety of symptoms of the patients with PED. We also emphasized that even if a mutation in the coding sequence does not make an amino acid change, it may cause the disease.