Associated Papers
Genotypes and phenotypes of DNM1 encephalopathy.
Kim J et al.
Journal of Medical Genetics, 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
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
Rim JH et al.
Bmc Medical Genomics, 2018
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