Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Riant F et al.
Neurology, 2022
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.
Wevers RA et al.
Journal of Inherited Metabolic Disease, 2019
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai MH et al.
Frontiers in Neurology, 2018
Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
Zhang LM et al.
Journal of Child Neurology, 2015
Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation.
Chou IC et al.
Biomedicine, 2014
PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.
Lee YC et al.
Plos One, 2012
Select a paper to view details