Genetic investigations of the epileptic encephalopathies
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Elsevier
Reference137 articles.
1. The eEF1A proteins: at the crossroads of oncogenesis, apoptosis, and viral infections;Abbas;Front. Oncol.,2015
2. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration;Abdel-Salam;Orphanet J. Rare Dis.,2014
3. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation;Afawi;Epilepsy Res.,2013
4. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy;Alazami;J. Med. Genet.,2014
5. The variable phenotypes of KCNQ-related epilepsy;Allen;Epilepsia,2014
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1. Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features;Human Genome Variation;2023-08-07
2. Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study;Brain;2022-03-01
3. Epilepsy Combined With Multiple Gene Heterozygous Mutation;Frontiers in Pediatrics;2022-03-01
4. Whole Genome Sequence Data From Captive Baboons Implicate RBFOX1 in Epileptic Seizure Risk;Frontiers in Genetics;2021-08-20
5. Developmental and epileptic encephalopathies: Is prognosis related to different epileptic network dysfunctions?;Epilepsy & Behavior;2021-01
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