Associated Papers
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Harms FL et al.
Neurogenetics, 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.
Li H et al.
Frontiers in Pharmacology, 2019
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S et al.
Neurology, 2017
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
Joshi C et al.
Biomed Research International, 2016
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