DNM1 encephalopathy: A new disease of vesicle fission.

doi:10.1212/WNL.0000000000004152

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Article

DNM1 encephalopathy: A new disease of vesicle fission.

Neurology - 25 Jul 2017

von Spiczak Sarah, Helbig Katherine L, Shinde Deepali N, Huether Robert, Pendziwiat Manuela, Lourenço Charles, Nunes Mark E, Sarco Dean P, Kaplan Richard A, Dlugos Dennis J, Kirsch Heidi, Slavotinek Anne, Cilio Maria R, Cervenka Mackenzie C, Cohen Julie S, McClellan Rebecca, Fatemi Ali, Yuen Amy, Sagawa Yoshimi, Littlejohn Rebecca, McLean Scott D, Hernandez-Hernandez Laura, Maher Bridget, Møller Rikke S, Palmer Elizabeth, Lawson John A, Campbell Colleen A, Joshi Charuta N, Kolbe Diana L, Hollingsworth Georgie, Neubauer Bernd A, Muhle Hiltrud, Stephani Ulrich, Scheffer Ingrid E, Pena Sérgio D J, Sisodiya Sanjay M, Helbig Ingo

Abstract excerpt

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...

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PMID: 28667181
DOI: 10.1212/WNL.0000000000004152
PMCID: PMC5574673

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DNM1

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