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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 112"
Page 1
Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome.
Oshino S, Tani N, Khoo HM, Kagitani-Shimono K, Nabatame S, Tominaga K, Yanagisawa T, Hirata M, Kishima H. Oshino S, et al. Neurol Med Chir (Tokyo). 2023 May 15;63(5):173-178. doi: 10.2176/jns-nmc.2022-0300. Epub 2023 Apr 6. Neurol Med Chir (Tokyo). 2023. PMID: 37019652 Free PMC article. Review.
Successful surgery for drug-resistant pediatric epilepsy can facilitate motor and cognitive development and improve quality of life by resolution or reduction of epileptic seizures. ...The following clinical factors were analyzed in relation to surgical outcome: sex …
Successful surgery for drug-resistant pediatric epilepsy can facilitate motor and cognitive development and improve quality of life b …
Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Shibata T, Tsuchiya H, Akiyama M, Akiyama T, Kobayashi K. Shibata T, et al. Epilepsy Res. 2024 May;202:107359. doi: 10.1016/j.eplepsyres.2024.107359. Epub 2024 Apr 4. Epilepsy Res. 2024. PMID: 38582072 Free article.
PURPOSE: In developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS), the thalamocortical network is suggested to play an important role in the pathophysiology of the progression from focal epilepsy to DEE-SWAS. ... …
PURPOSE: In developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS), the thalamoc …
Short-term Seizure Outcomes in Childhood Epilepsy.
Aaberg KM, Bakken IJ, Lossius MI, Lund Søraas C, Tallur KK, Stoltenberg C, Chin R, Surén P. Aaberg KM, et al. Pediatrics. 2018 Jun;141(6):e20174016. doi: 10.1542/peds.2017-4016. Epub 2018 May 22. Pediatrics. 2018. PMID: 29789444
In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% have drug-resistant epilepsy. ...Having an identified cause of epilepsy (genetic, structural, metabolic, or infectious) was as …
In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% …
Sleep in children with epilepsy: the role of maternal knowledge of childhood sleep.
Tsai SY, Lee WT, Lee CC, Jeng SF, Weng WC. Tsai SY, et al. Sleep. 2018 Nov 1;41(11). doi: 10.1093/sleep/zsy157. Sleep. 2018. PMID: 30137598 Clinical Trial.
Mothers completed the Parents' Sleep Knowledge Inventory and Children's Sleep Habits Questionnaire (CSHQ). Multivariate linear regression models were performed to predict CSHQ sleep disturbance scores, daily sleep duration, and daily sleep duration variability in children …
Mothers completed the Parents' Sleep Knowledge Inventory and Children's Sleep Habits Questionnaire (CSHQ). Multivariate linear regression mo …
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.
Seizures occurred in clusters in 94% of individuals, with seizures resolving in 28% at an average age of 17.5 years. Developmental delay prior to seizure onset occurred in 18% of our cohort. ...These phenotypic insights will inform diagnosis, management, and prognostic …
Seizures occurred in clusters in 94% of individuals, with seizures resolving in 28% at an average age of 17.5 years. Developmental de …
A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype.
Nolan DA, Chen B, Michon AM, Salatka E, Arndt D. Nolan DA, et al. Epileptic Disord. 2019 Feb 1;21(1):112-116. doi: 10.1684/epd.2019.1036. Epileptic Disord. 2019. PMID: 30767894
Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. ...This paper presents a novel case of adolescent-onset DNM1L-related …
Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, enceph …
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N. Peng J, et al. CNS Neurosci Ther. 2018 Dec;24(12):1196-1206. doi: 10.1111/cns.12860. Epub 2018 Apr 17. CNS Neurosci Ther. 2018. PMID: 29667327 Free PMC article.
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. ...The association between candidate genes a …
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms wi …
Clinical and genetic spectrum of a large cohort of children with epilepsy in China.
Yang L, Kong Y, Dong X, Hu L, Lin Y, Chen X, Ni Q, Lu Y, Wu B, Wang H, Lu QR, Zhou W. Yang L, et al. Genet Med. 2019 Mar;21(3):564-571. doi: 10.1038/s41436-018-0091-8. Epub 2018 Jun 21. Genet Med. 2019. PMID: 29930392 Free PMC article.
PURPOSE: Genetic diagnosis for children suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies. ...CONCLUSION: The 12 most commonly implicated genes in this cohort and the genes with treatment op …
PURPOSE: Genetic diagnosis for children suffering from epilepsy has important implications for treatment, prognosis, and devel …
Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.
Aaberg KM, Gunnes N, Bakken IJ, Lund Søraas C, Berntsen A, Magnus P, Lossius MI, Stoltenberg C, Chin R, Surén P. Aaberg KM, et al. Pediatrics. 2017 May;139(5):e20163908. doi: 10.1542/peds.2016-3908. Epub 2017 Apr 5. Pediatrics. 2017. PMID: 28557750
Of these, 896 had registry recordings and/or questionnaire reports of epilepsy. After validation, 587 (66%) met the criteria for an epilepsy diagnosis. ...The cumulative incidence of epilepsy was 0.66% at age 10 years, with 0.62% having active epilepsy …
Of these, 896 had registry recordings and/or questionnaire reports of epilepsy. After validation, 587 (66%) met the criteria for an …
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and p …
We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children …
26 results