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Neuropediatrics 2019; 50(01): 057-060
DOI: 10.1055/s-0038-1676288
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Lucie Sedláčková
1   DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Petra Laššuthová
1   DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Katalin Štěrbová
2   Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Jana Haberlová
2   Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Emílie Vyhnálková
3   Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Jana Neupauerová
1   DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
David Staněk
1   DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Marie Šedivá
2   Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Pavel Kršek
2   Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
,
Pavel Seeman
1   DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
› Author Affiliations