Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease

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KILIÇ B., TOPÇU Y., Dursuna S., Erol I., Dolu M. H., Tasdemir H. A., ...More

BRAIN & DEVELOPMENT, vol.42, no.8, pp.572-580, 2020 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 42 Issue: 8
• Publication Date: 2020
• Doi Number: 10.1016/j.braindev.2020.05.008
• Journal Name: BRAIN & DEVELOPMENT
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
• Page Numbers: pp.572-580
• Keywords: SLC19A3, Thiamine, Biotin, Clinical presentation, MRI patterns, EXOME SEQUENCING REVEALS, SLC19A3, MUTATIONS, PHENOTYPE
• Ondokuz Mayıs University Affiliated: Yes

Abstract

Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.