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Paper Details

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
1
2022
Candidate genes, Complex Neurodevelopmental Disorder, Dystonia, G396S, G396S RNA, L-proline, L-proline transporter, MED27, MED27-related disorder, MPPE1, MPPE1 Variants, MPPE1 dysfunction, MPPE1 gene variants, MPPE1 variants, Movement Disorders, Parkinson and Movement Disorder, SLC6A7, SLC6A7 and MPPE1 gene variants, SLC6A7 and MPPE1 variants, SLC6A7 variant, cataracts, children, chorea, developmental delay, epilepsy, episodic status dystonicus, fragile motor, generalized dystonia, neurodevelopmental disorders, neuron, patient, patients, proline, slc6a7, zebrafish
Author NameAffiliation
Kathleen M GormanDepartment of Neurology and Clinical Neurophysiology
Kathleen M GormanUniversity College Dublin
Michael A SimpsonKing's College London School of Medicine
Maya TopfLeibniz Institute for Virology (HPI) and Universitatsklinikum Hamburg Eppendorf (UKE)
Maya TopfInstitute of Structural and Molecular Biology, Birkbeck College, University of London
Detelina GrozevaCambridge Institute for Medical Research, University of Cambridge
Detelina GrozevaCardiff University
Richard H ScottGreat Ormond Street Hospital
Frances Lucy RaymondCardiff University
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Datasets

Release 1.2