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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 57"
Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). ...SIGNIFICANCE: Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE t …
Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephal …
Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
Nickels K, Kossoff EH, Eschbach K, Joshi C. Nickels K, et al. Epilepsia. 2021 Jan;62(1):120-127. doi: 10.1111/epi.16752. Epub 2020 Nov 14. Epilepsia. 2021. PMID: 33190223
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...RESULTS: A total of 166 children were identified. Global developmental delay (>1 domain) was present in 2% of children at onset and 49% …
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...RESULT …
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. .. …
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C. Matricardi S, et al. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16. Epilepsia. 2020. PMID: 33063863 Review.
SIGNIFICANCE: Autosomal recessive pathogenic variants in SLC13A5 are associated with a distinct neonatal epileptic encephalopathy evolving into severe cognitive and motor impairment, yet with seizures that settle down in late childhood. Tooth hypoplasia or hypodonti …
SIGNIFICANCE: Autosomal recessive pathogenic variants in SLC13A5 are associated with a distinct neonatal epileptic encephalopathy …
Arginase deficiency-An unheralded cause of developmental epileptic encephalopathy.
Pavuluri H, Jose M, Fasaludeen A, Sundaram S, Radhakrishnan A, Banerjee M, Menon RN. Pavuluri H, et al. Epileptic Disord. 2023 Aug;25(4):556-561. doi: 10.1002/epd2.20081. Epub 2023 May 31. Epileptic Disord. 2023. PMID: 37243436
Arginase deficiency, which leads to hyperargininaemia is a rare urea cycle disorder caused by a mutation in the ARG1 gene. It is an under-recognized cause of pediatric developmental epileptic encephalopathy, with the key coexistent clinical features being …
Arginase deficiency, which leads to hyperargininaemia is a rare urea cycle disorder caused by a mutation in the ARG1 gene. It is an under-re …
Angioarchitecture and prognosis of pediatric intracranial pial arteriovenous fistula.
Li J, Ji Z, Yu J, Ren J, Yang F, Bian L, Zhi X, Li G, Zhang H. Li J, et al. Stroke Vasc Neurol. 2023 Aug;8(4):292-300. doi: 10.1136/svn-2022-001979. Epub 2023 Jan 6. Stroke Vasc Neurol. 2023. PMID: 36609545 Free PMC article.
RESULTS: Their mean age was 4.93.9 years, and the mean preoperative modified Rankin Scale (mRS) score was 1.641.57. Fourteen patients (33.3%) were asymptomatic, followed by epilepsy (21.4%), intracranial haemorrhage (16.7%), hydrocephalus (9.5%), developmental delay …
RESULTS: Their mean age was 4.93.9 years, and the mean preoperative modified Rankin Scale (mRS) score was 1.641.57. Fourteen patients (33.3% …
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 …
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Li W, Schneider AL, Scheffer IE. Li W, et al. Epilepsia. 2021 Sep;62(9):2205-2217. doi: 10.1111/epi.17015. Epub 2021 Aug 2. Epilepsia. 2021. PMID: 34338318 Free PMC article.
OBJECTIVE: The classical description of Dravet syndrome, the prototypic developmental and epileptic encephalopathy, is of a normal 6-month-old infant presenting with a prolonged, febrile, hemiclonic seizure and showing developmental slowing after age 1 …
OBJECTIVE: The classical description of Dravet syndrome, the prototypic developmental and epileptic encephalopathy, is …
Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children.
Räikkönen K, Gissler M, Tapiainen T, Kajantie E. Räikkönen K, et al. JAMA Netw Open. 2022 Aug 1;5(8):e2228518. doi: 10.1001/jamanetworkopen.2022.28518. JAMA Netw Open. 2022. PMID: 36001315 Free PMC article.
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticosteroid treatment and physician-diagnosed specific developmental disorders of speech and language, scholastic skills, and motor function; …
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticostero …
Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.
Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A. Jańczewska I, et al. Neurol Neurochir Pol. 2023;57(3):269-281. doi: 10.5603/PJNNS.a2023.0026. Epub 2023 Apr 20. Neurol Neurochir Pol. 2023. PMID: 37078131 Free article.
Counselling parents regarding their causes and associated syndromes, and predicting the neurodevelopmental and seizure risk prognosis, is challenging. ...Additional abnormalities were shown to be significantly associated with developmental delay and increased …
Counselling parents regarding their causes and associated syndromes, and predicting the neurodevelopmental and seizure risk progno …
91 results