Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

@inproceedings{Flnes2016NovelSP,
  title={Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy},
  author={Irene H Fl\ones and Paweł Sztromwasser and Kristoffer Haugarvoll and C. Doelle and Maria Lykouri and Thomas Schwarzlm{\"u}ller and Inge Jonassen and Hrvoje Miletic and Stefan B. Johansson and Per Morten Knappskog and Laurence A Bindoff and Charalampos Tzoulis and Andreas R Janecke},
  booktitle={PloS one},
  year={2016}
}
BACKGROUND Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment. METHODS AND RESULTS In two siblings with early-onset encephalopathy dystonia and epilepsy, whole-exome sequencing revealed a… CONTINUE READING
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