ArticleMolecular genetics & genomic medicine2022
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 12 citations in OpenAlex.
- Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.Orphanet journal of rare diseases · 2026Article
- Favorable response to ketogenic diet therapy in a patient withEpilepsy & behavior reports · 2025Article
- Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.Brain communications · 2025Article
- A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing.Journal of cell science · 2023Article
- De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.Molecular genetics & genomic medicine · 2022Article
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5 authors at 2 institutions in 1 country.
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Abstract
backgroundThe human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems.
methodsThe clinical characteristics and genetic data of an infant carrying the de novo DYNC1H1 variant identified by trio exome sequencing were analyzed. Patients with epilepsy with DYNC1H1 mutations were summarized by reviewing the literature.
resultsWe first identified an infant presenting with epileptic spasms harboring a de novo missense mutation in DYNC1H1 (c.874C>T; p. Arg292Trp), once reported in an adult case, and further summarized another 54 patients with seizures or epilepsy caused by DYNC1H1 pathogenic variants in the literature. Refractory epilepsy, intellectual disability, and cortical developmental malformations are crucial characteristics of patients with developmental and epileptic encephalopathy (DEE) caused by DYNC1H1 variants. Notably, epileptic spasms in this case were resistant to multiple anti-seizure medications, corticosteroids, ketogenic diet, and vagus nerve stimulation treatment. The child also showed cortical gyrus malformation and global developmental delay.
conclusionDYNC1H1 variants can cause infantile developmental and epileptic encephalopathy, in which Arg292Trp is a mutation hotspot of the DYNC1H1 gene. Epileptic seizures in this type of DYNC1H1-related DEE are mostly resistant to multiple antiepileptic strategies and need to explore optimized treatments.
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