Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-00208-6.pdf
Reference48 articles.
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2. Kato, M. et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 81, 361–366 (2007).
3. Caraballo, R. et al. Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients. Seizure 20, 640–645 (2011).
4. Stromme, P. et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30, 441–445 (2002).
5. Weaving, L. S. et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75, 1079–1093 (2004).
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2. Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review;Frontiers in Neurology;2023-04-25
3. DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum;Epilepsy & Behavior Reports;2023
4. A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing;Journal of Cell Science;2022-10-31
5. DYNC1H1 ‐related epilepsy: Genotype–phenotype correlation;Developmental Medicine & Child Neurology;2022-09-29
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