A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism

Johannes Gebert

1   Department of Neurology, Medical University of Vienna, Vienna, Austria

2   Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria

,

Theresa Brunet

3   Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany

,

Matias Wagner

3   Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany

4   Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany

,

Jakob Rath

1   Department of Neurology, Medical University of Vienna, Vienna, Austria

2   Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria

,

Susanne Aull-Watschinger

1   Department of Neurology, Medical University of Vienna, Vienna, Austria

2   Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria

,

Ekaterina Pataraia

1   Department of Neurology, Medical University of Vienna, Vienna, Austria

2   Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria

,

Martin Krenn

1   Department of Neurology, Medical University of Vienna, Vienna, Austria

2   Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria

› Author Affiliations

None.

留言 (0)

沒有登入
gif