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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 102"
Page 1
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.
O'Callaghan FJ, Edwards SW, Alber FD, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay M, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP; participating investigators. O'Callaghan FJ, et al. Lancet Neurol. 2017 Jan;16(1):33-42. doi: 10.1016/S1474-4422(16)30294-0. Epub 2016 Nov 10. Lancet Neurol. 2017. PMID: 27838190 Free article. Clinical Trial.
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. ...Block randomisation was stratified for hormonal treatment and risk of developmental impairment. Parents and clinicians were not mask …
BACKGROUND: Infantile spasms constitutes a severe infantile epilepsy syndrome that is difficult to treat and has a high morbidity. .. …
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.
Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ. Cloppenborg T, et al. Neurology. 2022 Jan 18;98(3):e225-e235. doi: 10.1212/WNL.0000000000013065. Epub 2021 Nov 18. Neurology. 2022. PMID: 34795046
BACKGROUND AND OBJECTIVES: To identify predictors of postoperative intelligence and developmental quotients (IQ/DQ) and develop and validate clinically applicable IQ/DQ prediction models. ...The presented models can improve presurgical counseling of patients …
BACKGROUND AND OBJECTIVES: To identify predictors of postoperative intelligence and developmental quotients (IQ/DQ) and develo …
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. ...Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missen …
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neuro …
Language in pediatric epilepsy.
Caplan R, Siddarth P, Vona P, Stahl L, Bailey C, Gurbani S, Sankar R, Donald Shields W. Caplan R, et al. Epilepsia. 2009 Nov;50(11):2397-407. doi: 10.1111/j.1528-1167.2009.02199.x. Epub 2009 Jul 14. Epilepsia. 2009. PMID: 19624713 Free article.
Prolonged seizures, lower Performance IQ, and minority status predicted low language scores in the intermediate epilepsy group. In the adolescent group, language impairment was associated with poor seizure control, decreased Performance IQ, and lower socioeconomic s …
Prolonged seizures, lower Performance IQ, and minority status predicted low language scores in the intermediate epilepsy group …
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.

However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (40) and higher than the mean (>100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approx

…
However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (40) and …
Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy.
Kirkham FJ, Vigevano F, Raspall-Chaure M, Wilken B, Lee D, Le Reun C, Werner-Kiechle T, Lagae L. Kirkham FJ, et al. Epilepsy Behav. 2020 Jan;102:106340. doi: 10.1016/j.yebeh.2019.04.058. Epub 2019 Nov 13. Epilepsy Behav. 2020. PMID: 31733569 Free article.
OBJECTIVE: This study aimed to provide information on the burden of illness and health-related quality of life (HRQoL) in children with epilepsy who experience prolonged acute convulsive seizures (PACS) in the community setting, and to investigate factors that may predi …
OBJECTIVE: This study aimed to provide information on the burden of illness and health-related quality of life (HRQoL) in children with e …
Neurological complications of childhood malignancies.
Taşdemiroğlu E, Patchell RA, Kryscio R. Taşdemiroğlu E, et al. Acta Neurochir (Wien). 1999;141(12):1313-21. doi: 10.1007/s007010050436. Acta Neurochir (Wien). 1999. PMID: 10672303
Fifty-one (33%) of these cases suffered with 64 neurological complications during the course of their diseases. Nine cases suffered with multiple neurological complications. ...One case had paraneoplastic syndrome, one case had panhypopituitarism secondary to whole …
Fifty-one (33%) of these cases suffered with 64 neurological complications during the course of their diseases. Nine cases suf …
Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis.
Fallah A, Guyatt GH, Snead OC 3rd, Ebrahim S, Ibrahim GM, Mansouri A, Reddy D, Walter SD, Kulkarni AV, Bhandari M, Banfield L, Bhatnagar N, Liang S, Teutonico F, Liao J, Rutka JT. Fallah A, et al. PLoS One. 2013;8(2):e53565. doi: 10.1371/journal.pone.0053565. Epub 2013 Feb 6. PLoS One. 2013. PMID: 23405072 Free PMC article. Review.
DATA EXTRACTION: One author performed data extraction which was verified by a second author using predefined data fields including study quality assessment using a risk of bias instrument we developed. We recorded all preoperative factors that may plausibly predict seizure …
DATA EXTRACTION: One author performed data extraction which was verified by a second author using predefined data fields including study qua …
Neurodevelopmental outcome predictors of term newborns with neonatal seizures.
Martins R, Coelho J, Dos Santos TP, Moreno T, Quintas S, Levy A. Martins R, et al. Rev Neurol. 2019 Nov 1;69(9):370-376. doi: 10.33588/rn.6909.2019209. Rev Neurol. 2019. PMID: 31657449 Free article. English, Spanish.
Adverse outcome was determined as death, global developmental delay, cerebral palsy or epilepsy. Perinatal characteristics, etiology, electrographic features, neuroimaging and antiepileptic treatment were analyzed in a logistic regression model. ...CONCLUSIONS: Ther …
Adverse outcome was determined as death, global developmental delay, cerebral palsy or epilepsy. Perinatal characteristics, et …
Children with ESES: variability in the syndrome.
Van Hirtum-Das M, Licht EA, Koh S, Wu JY, Shields WD, Sankar R. Van Hirtum-Das M, et al. Epilepsy Res. 2006 Aug;70 Suppl 1:S248-58. doi: 10.1016/j.eplepsyres.2006.01.020. Epub 2006 Jun 23. Epilepsy Res. 2006. PMID: 16806829
Key findings include: (1) neuroimaging abnormalities were uncommon in our LKS patients; (2) among children who do not fit the specific diagnostic criteria for LKS, a spike-wave index (SWI) >50% was more likely to be associated with global developmental disturbances than …
Key findings include: (1) neuroimaging abnormalities were uncommon in our LKS patients; (2) among children who do not fit the specific diagn …
13 results