Journal article

DNM1 encephalopathy A new disease of vesicle fission

Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenco, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn Show all

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2017

Abstract

OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. RESULTS: We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutatio..

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University of Melbourne Researchers

Grants

Awarded by German Research Foundation within the Euro-EPINOMICS


Awarded by German Research Foundation (DFG)


Awarded by German Ministry for Education and Research


Awarded by Wellcome Trust Strategic Award


Awarded by German Research Foundation


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

I.H. was supported by intramural funds of the University of Kiel, a grant from the German Research Foundation (HE5415/3-1) within the Euro-EPINOMICS framework of the European Science Foundation, and grants from the German Research Foundation (DFG, HE5415/5-1, HE5415/6-1), German Ministry for Education and Research (01DH12033, MAR 10/012), and the German chapter of the ILAE. I.H. has also received support through the ILAE within the Epilepsiome initiative of the ILAE Genetics Commission (www.channelopathist.net). Part of this work was undertaken at University College London Hospitals, which received a proportion of funding from the NIHR Biomedical Research Centres funding scheme. S.M.S received funding from a Wellcome Trust Strategic Award (WT104033AIA) and the Epilepsy Society. B.A.N. was supported by the German Research Foundation (BN416/5-1).