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Quoted phrase not found in phrase index: "Epilepsy, childhood absence, susceptibility to, 1"
Page 1
Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J. Fang Y, et al. Neurology. 2023 Jul 25;101(4):e399-e409. doi: 10.1212/WNL.0000000000207423. Epub 2023 May 24. Neurology. 2023. PMID: 37225432 Free PMC article.
Epilepsy phenotypes included all epilepsy, generalized epilepsy, focal epilepsy, childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized epilepsy with tonic-clonic …
Epilepsy phenotypes included all epilepsy, generalized epilepsy, focal epilepsy, childhood absence …
Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.
He Z, Li Y, Liu S, Li J. He Z, et al. Epilepsia Open. 2023 Dec;8(4):1452-1459. doi: 10.1002/epi4.12818. Epub 2023 Aug 26. Epilepsia Open. 2023. PMID: 37602490 Free PMC article.
OBJECTIVE: Observational studies have shown an association between COVID-19 and epilepsy. However, causality remains unproven. This study aimed to investigate the causative effect of genetically predicted COVID-19 phenotypes on epilepsy risk using a two-sampl …
OBJECTIVE: Observational studies have shown an association between COVID-19 and epilepsy. However, causality remains unproven. This s …
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y. Xie H, et al. Epilepsy Res. 2019 Aug;154:55-61. doi: 10.1016/j.eplepsyres.2019.04.005. Epub 2019 Apr 22. Epilepsy Res. 2019. PMID: 31054517
This study aimed to identify monogenic mutations from Chinese patients with childhood absence epilepsy (CAE) and summarize their characteristics. ...All recruited patients presented typical CAE features and good prognosis. To date, CAE has been conside …
This study aimed to identify monogenic mutations from Chinese patients with childhood absence epilepsy (CAE) and summar …
Diagnosis and long-term course of Dravet syndrome.
Scheffer IE. Scheffer IE. Eur J Paediatr Neurol. 2012 Sep;16 Suppl 1:S5-8. doi: 10.1016/j.ejpn.2012.04.007. Epub 2012 Jun 16. Eur J Paediatr Neurol. 2012. PMID: 22704920 Review.
Dravet syndrome is a severe infantile-onset epilepsy syndrome with a distinctive but complex electroclinical presentation. ...Intellectual impairment varies from severe in 50% patients, to moderate and mild intellectual disability each accounting for 25% cases. Rare patien …
Dravet syndrome is a severe infantile-onset epilepsy syndrome with a distinctive but complex electroclinical presentation. ...Intelle …
Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, Friis M, Goutieres F, Guerrini R, Heils A, Kjeldsen M, Lehesjoki AE, Makoff A, Nabbout R, Olsson I, Sander T, Sirén A, McKeigue P, Robinson R, Taske N, Rees M, Gardiner M. Everett KV, et al. Eur J Hum Genet. 2007 Apr;15(4):463-72. doi: 10.1038/sj.ejhg.5201783. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264864 Free PMC article.
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. ...No coding sequence variants were identified, …
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures …
Testicular androgens determining the incidence of spike-wave discharges in taiep rats: A model of H-ABC leukodystrophy.
Carmen C, Ibarra-Hernández JM, Estefania GP, Eguibar JR. Carmen C, et al. Neurosci Lett. 2022 Jun 21;782:136684. doi: 10.1016/j.neulet.2022.136684. Epub 2022 May 17. Neurosci Lett. 2022. PMID: 35595190
Absence seizures are characterized as a generalized type of epilepsy that occurs during childhood. ...These findings will have implications in children with this type of generalized epilepsy and may explain the disappearance of absence epilep …
Absence seizures are characterized as a generalized type of epilepsy that occurs during childhood. ...These findings wi …
Magnetic susceptibility as a 1-year predictor of outcome in familial cerebral cavernous malformations: a pilot study.
Incerti I, Fusco M, Contarino VE, Siggillino S, Conte G, Lanfranconi S, Bertani GA, Gaudino C, d'Orio P, Pallini R, D'Alessandris QG, Meessen JMTA, Nicolis EB, Vasamì A, Dejana E, Bianchi AM, Triulzi FM, Latini R, Scola E. Incerti I, et al. Eur Radiol. 2023 Jun;33(6):4158-4166. doi: 10.1007/s00330-022-09366-2. Epub 2023 Jan 5. Eur Radiol. 2023. PMID: 36602570
OBJECTIVES: To test whether quantitative susceptibility mapping (QSM) of cerebral cavernous malformations (CCMs) assessed at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up. ...KEY POINTS: QSM in semi-automatically segme …
OBJECTIVES: To test whether quantitative susceptibility mapping (QSM) of cerebral cavernous malformations (CCMs) assessed at baseline …
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Zhang L, Gao J, Liu H, Tian Y, Zhang X, Lei W, Li Y, Guo Y, Yu H, Yuan E, Liang L, Cui S, Zhang X. Zhang L, et al. Hum Genomics. 2020 Dec 7;14(1):44. doi: 10.1186/s40246-020-00294-0. Hum Genomics. 2020. PMID: 33287870 Free PMC article.
Therefore, WES heralds promise as a tool for clinical diagnosis of patients with genetic disease. CONCLUSION: Early establishment of a specific diagnosis, on the one hand, is necessary for providing an accurate prognosis and recurrence risk as well as optimizing man …
Therefore, WES heralds promise as a tool for clinical diagnosis of patients with genetic disease. CONCLUSION: Early establishment of …
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE. Sadleir LG, et al. Epilepsia. 2020 Apr;61(4):e23-e29. doi: 10.1111/epi.16475. Epub 2020 Mar 12. Epilepsia. 2020. PMID: 32162308 Free PMC article.
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. ...Following interviews and review of medical records, individuals' se …
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence …
Epilepsy classification and factors associated with control in Saudi adult patients.
Abduljabbar M, Ogunniyi A, Daif AK, Al-Tahan A, Al-Bunyan M, Al-Rajeh S. Abduljabbar M, et al. Seizure. 1998 Dec;7(6):501-4. doi: 10.1016/s1059-1311(98)80010-1. Seizure. 1998. PMID: 9888496 Free article. Clinical Trial.
The seizure types were: generalized tonic-clonic (43.8%), partial seizure secondarily generalized (41.9%), myoclonic (8.4%), simple partial (1.3%), complex partial (1.3%) and absence (0.4%). About 15% of the classifiable epilepsies were symptomatic. ...One-year remission r …
The seizure types were: generalized tonic-clonic (43.8%), partial seizure secondarily generalized (41.9%), myoclonic (8.4%), simple partial …
24 results