Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

@article{Debs2010BiotinresponsiveBG,
  title={Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.},
  author={Rabab Debs and Christel Depienne and Agn{\`e}s Rastetter and Agn{\'e}s Bellanger and Bertrand Degos and Damien Galanaud and Boris Keren and Olivier Lyon-Caen and Alexis Brice and Fr{\'e}d{\'e}ric Sedel},
  journal={Archives of neurology},
  year={2010},
  volume={67 1},
  pages={126-30}
}
OBJECTIVE To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN Case reports. SETTING University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized… CONTINUE READING