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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 112"
Page 1
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. ...METHODS: Participants were recruited from within the Internatio …
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy …
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 …
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392 Free PMC article.
One patient with 5q31.3 microdeletion further supported the shortest overlapping region only contains PURA and IGIP gene. Developmental delay/intellectual disability, neonatal hypotonia, neonatal feeding difficulties, hypersomnolence and dysmorphic features were prominent …
One patient with 5q31.3 microdeletion further supported the shortest overlapping region only contains PURA and IGIP gene. Developmental …
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 ch …
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.
Of the 112 individuals represented (15 males), there were 70 unique variants. ...No clinical profile was observed for transmitting males. This is the first patient-derived standardized assessment of the neuropsychiatric profile of GCE. ...
Of the 112 individuals represented (15 males), there were 70 unique variants. ...No clinical profile was observed for transmit …
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 …
Anesthetic management of a pediatric patient with Dravet syndrome: A case report.
Hase Y, Takuma S, Hojo T, Nitta Y, Kamekura N. Hase Y, et al. Medicine (Baltimore). 2023 Jan 27;102(4):e32709. doi: 10.1097/MD.0000000000032709. Medicine (Baltimore). 2023. PMID: 36705365 Free PMC article.
DS is refractory to drug treatment. Moreover, status epilepticus (SE) can cause serious encephalopathy and epilepsy-related deaths. There are very few reports of general anesthesia in DS patients. ...His medical history included drug-resistant epilepsy, de …
DS is refractory to drug treatment. Moreover, status epilepticus (SE) can cause serious encephalopathy and epilepsy-related de …
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Lewis H, et al. Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13. Pediatr Neurol. 2020. PMID: 32446642
Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%) …
Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and foca …
Parenting stress and perceived stigma in mothers of young children with epilepsy: A case-control study.
Reilly C, Atkinson P, Memon A, Jones C, Dabydeen L, Das KB, Cross JH, Neville BGR, Gillberg C, Scott RC. Reilly C, et al. Epilepsy Behav. 2018 Dec;89:112-117. doi: 10.1016/j.yebeh.2018.10.016. Epub 2018 Nov 6. Epilepsy Behav. 2018. PMID: 30412923
Neurodisability 21%; p = 0.01), but not on the Parental Distress subscale (Epilepsy 32% vs. Neurodisability 23%; p = 0.33) or Difficult Child (Epilepsy 57% vs. ...Lower child developmental level was the only factor independently associated with increased stig …
Neurodisability 21%; p = 0.01), but not on the Parental Distress subscale (Epilepsy 32% vs. Neurodisability 23%; p = 0.33) or Difficu …
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. ...Genes with supporting evidence from those …
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms wi …
29 results