Associated Papers
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Abdi M et al.
Genome Medicine, 2023
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 Mutation in a child associated with progressive bilateral mesial temporal sclerosis.
Lazzara A et al.
Clinical Case Reports, 2018
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