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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 110"
Page 1
Genetics and SUDEP: Challenges and Future Directions.
Whitney R, Sharma S, Jones KC, RamachandranNair R. Whitney R, et al. Seizure. 2023 Aug;110:188-193. doi: 10.1016/j.seizure.2023.07.002. Epub 2023 Jul 2. Seizure. 2023. PMID: 37413779 Review.
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related deaths in children and adults with epilepsy. ...Pleiotropy may occur in which a single gene when altered may cause multiple phenotypes (i.e., epilepsy and cardiac arrh …
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related deaths in children and adults with epi …
Disparities in adherence and emergency department utilization among people with epilepsy: A machine learning approach.
Bensken WP, Vaca GF, Williams SM, Khan OI, Jobst BC, Stange KC, Sajatovic M, Koroukian SM. Bensken WP, et al. Seizure. 2023 Aug;110:169-176. doi: 10.1016/j.seizure.2023.06.021. Epub 2023 Jun 28. Seizure. 2023. PMID: 37393863
We further stratified these models by race and ethnicity. RESULTS: From 52,175 people with epilepsy, the CART model identified developmental disabilities, age, race and ethnicity, and utilization as top predictors of adherence. When stratified by race and ethnicity, …
We further stratified these models by race and ethnicity. RESULTS: From 52,175 people with epilepsy, the CART model identified dev …
Developmental organization of neural dynamics supporting auditory perception.
Sakakura K, Sonoda M, Mitsuhashi T, Kuroda N, Firestone E, O'Hara N, Iwaki H, Lee MH, Jeong JW, Rothermel R, Luat AF, Asano E. Sakakura K, et al. Neuroimage. 2022 Sep;258:119342. doi: 10.1016/j.neuroimage.2022.119342. Epub 2022 May 30. Neuroimage. 2022. PMID: 35654375 Free PMC article.
Yet, few studies have characterized the neural spatiotemporal dynamics supporting rapid detection and subsequent disregard of irrelevant auditory information, in the developing brain. To address this unknown, the present study modeled the developmental acquisition o …
Yet, few studies have characterized the neural spatiotemporal dynamics supporting rapid detection and subsequent disregard of irrelevant aud …
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C, Greene C, Smith L, Pestana-Knight E, Demarest S, Zhang B, Benke TA, Poduri A, Olson HE; CDKL5 Study Group. Daniels C, et al. Dev Med Child Neurol. 2024 Apr;66(4):456-468. doi: 10.1111/dmcn.15747. Epub 2023 Sep 28. Dev Med Child Neurol. 2024. PMID: 37771170
Features reported significantly more frequently in the CDD group than in the comparison cohort included developmental and epileptic encephalopathy (81% vs 66%), treatment-resistant epilepsy (95% vs 71%), sequential seizures (46% vs 6%), epileptic …
Features reported significantly more frequently in the CDD group than in the comparison cohort included developmental and epilepti …
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
The c.115del (p.Arg39Glyfs()33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack o …
The c.115del (p.Arg39Glyfs()33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely imp …
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Bundalian L, Su YY, Chen S, Velluva A, Kirstein AS, Garten A, Biskup S, Battke F, Lal D, Heyne HO, Platzer K, Lin CC, Lemke JR, Le Duc D; Epi25 Collaborative. Bundalian L, et al. Am J Hum Genet. 2023 Jul 6;110(7):1110-1122. doi: 10.1016/j.ajhg.2023.06.004. Epub 2023 Jun 26. Am J Hum Genet. 2023. PMID: 37369202 Free PMC article.
Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants. ...To determine the importance of rare variants for different epilepsy types, we ana …
Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainl …
Response to treatment and outcomes of infantile spasms in Down syndrome.
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group. Harvey S, et al. Dev Med Child Neurol. 2022 Jun;64(6):780-788. doi: 10.1111/dmcn.15153. Epub 2022 Jan 29. Dev Med Child Neurol. 2022. PMID: 35092693 Free PMC article.
At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. ...INTERPRETATION: Prednisolone is an effective and well-tolerated medication for treating infanti …
At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 day …
Psychiatric comorbidities, sexual health and neurodevelopmental outcomes of offspring in men with epilepsy.
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC. Casale M, et al. Epilepsy Behav. 2021 Jan;114(Pt A):107562. doi: 10.1016/j.yebeh.2020.107562. Epub 2020 Nov 24. Epilepsy Behav. 2021. PMID: 33243681 Free PMC article.
Odds ratio (OR) were calculated to determine associations between the measured data. RESULTS: After matching for age, we analyzed a total of 110 males with epilepsy and 110 without epilepsy. In the epilepsy group there was a higher rate of psych …
Odds ratio (OR) were calculated to determine associations between the measured data. RESULTS: After matching for age, we analyzed a total of …
The mTOR signalling cascade: paving new roads to cure neurological disease.
Crino PB. Crino PB. Nat Rev Neurol. 2016 Jul;12(7):379-92. doi: 10.1038/nrneurol.2016.81. Epub 2016 Jun 24. Nat Rev Neurol. 2016. PMID: 27340022 Review.
Alterations in the dual contributions of mTOR - regulation of cell growth and proliferation, as well as autophagy and cell death - have been found in developmental brain malformations, epilepsy, autism and intellectual disability, hypoxic-ischaemic and trauma …
Alterations in the dual contributions of mTOR - regulation of cell growth and proliferation, as well as autophagy and cell death - have been …
Epilepsy prevalence and severity predictors in MRI-identified focal cortical dysplasia.
Maynard LM, Leach JL, Horn PS, Spaeth CG, Mangano FT, Holland KD, Miles L, Faist R, Greiner HM. Maynard LM, et al. Epilepsy Res. 2017 May;132:41-49. doi: 10.1016/j.eplepsyres.2017.03.001. Epub 2017 Mar 6. Epilepsy Res. 2017. PMID: 28288357
To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no epilepsy among children with MRI-identified FCD. ...Age of seizure onset was later in those with drug-responsive epilepsy than th …
To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no …
46 results