Ontology highlight
ABSTRACT:
SUBMITTER: Savasta S
PROVIDER: S-EPMC6499607 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Savasta Salvatore S Bassanese Francesco F Buschini Chiara C Foiadelli Thomas T Trabatti Chiara C Efthymiou Stephanie S Salpietro Vincenzo V Houlden Henry H Simoncelli Annamaria A Marseglia Gian Luigi GL
Journal of pediatric genetics 20181218 2
Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the <i>SLC19A3</i> gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an acute encephalopathy with seizures, loss of motor function, developmental regression, dystonia, external ophthalmoplegia, dysphagia, and dysarthria ...[more]