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Page 1
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). ...The phenotype of patients carrying splice variants was variable …
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (10 …
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X. Bozarth XL, et al. Genes (Basel). 2023 Mar 31;14(4):852. doi: 10.3390/genes14040852. Genes (Basel). 2023. PMID: 37107610 Free PMC article.
Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; however, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable ea …
Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical fac …
Neonatal seizures: advances in mechanisms and management.
Glass HC. Glass HC. Clin Perinatol. 2014 Mar;41(1):177-90. doi: 10.1016/j.clp.2013.10.004. Epub 2013 Dec 12. Clin Perinatol. 2014. PMID: 24524454 Free PMC article. Review.
Seizures occur in approximately 1 to 5 per 1000 live births and are among the most common neurologic conditions managed by a neonatal neurocritical care service. There are several, age-specific factors that are particular to the developing brain, which influence exc …
Seizures occur in approximately 1 to 5 per 1000 live births and are among the most common neurologic conditions managed by a neonatal neuroc …
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
FINDINGS: Between Sept 1, 2021, and Aug 31, 2022, we enrolled 100 infants with new-onset epilepsy, of whom 41 (41%) were girls and 59 (59%) were boys. Median age of seizure onset was 128 days (IQR 46-192). ...Genetic diagnosis was associated with neonatal sei …
FINDINGS: Between Sept 1, 2021, and Aug 31, 2022, we enrolled 100 infants with new-onset epilepsy, of whom 41 (41%) wer …
Association of guideline publication and delays to treatment in pediatric status epilepticus.
Sánchez Fernández I, Abend NS, Amengual-Gual M, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Gaínza-Lein M, Glauser T, Goldstein J, Goodkin HP, Guerriero RM, Lai YC, McDonough T, Mikati MA, Morgan LA, Novotny E Jr, Payne E, Peariso K, Piantino J, Ostendorf A, Sands TT, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian AA, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; pSERG. Sánchez Fernández I, et al. Neurology. 2020 Sep 1;95(9):e1222-e1235. doi: 10.1212/WNL.0000000000010174. Epub 2020 Jul 1. Neurology. 2020. PMID: 32611646 Free PMC article.
Among 157 patients with out-of-hospital onset whose time to hospital arrival was available, the proportion who received at least 1 BZD before hospital arrival increased after publication of evidence of delays (41 of 81 [50.6%] vs 57 of 76 [75%], p = 0.0018), and the odds r …
Among 157 patients with out-of-hospital onset whose time to hospital arrival was available, the proportion who received at least 1 BZD befor …
Treatment Practices and Outcomes in Continuous Spike and Wave during Slow Wave Sleep: A Multicenter Collaboration.
Baumer FM, McNamara NA, Fine AL, Pestana-Knight E, Shellhaas RA, He Z, Arndt DH, Gaillard WD, Kelley SA, Nagan M, Ostendorf AP, Singhal NS, Speltz L, Chapman KE. Baumer FM, et al. J Pediatr. 2021 May;232:220-228.e3. doi: 10.1016/j.jpeds.2021.01.032. Epub 2021 Jan 20. J Pediatr. 2021. PMID: 33484700 Free PMC article.
RESULTS: Eighty-one children underwent 153 treatment trials during the study period (68 trials of benzodiazepines, 25 of steroids, 45 of ASMs, 14 of other therapies). Children most frequently received benzodiazepines (62%) or ASMs (27%) as first line therapy. ...CON …
RESULTS: Eighty-one children underwent 153 treatment trials during the study period (68 trials of benzodiazepines, 25 of steroids, 45 of ASM …
Real-Life Experience With Purified Cannabidiol Treatment for Refractory Epilepsy: A Multicenter Retrospective Study.
Tzadok M, Gur-Pollack R, Florh H, Michaeli Y, Gilboa T, Lezinger M, Heyman E, Chernuha V, Gudis I, Nissenkorn A, Lerman-Sagie T, Ben Zeev B, Uliel-Sibony S. Tzadok M, et al. Pediatr Neurol. 2024 Jan;150:91-96. doi: 10.1016/j.pediatrneurol.2023.10.012. Epub 2023 Oct 20. Pediatr Neurol. 2024. PMID: 37995414 Free article.
BACKGROUND: Drug-resistant epilepsy (DRE) affects the development and quality of life of children and young adults. ...Most patients (92.2%) had a reduced seizure frequency following treatment initiation; 41.1% had >50% reduction. Fifty-three patients (38.1%) had …
BACKGROUND: Drug-resistant epilepsy (DRE) affects the development and quality of life of children and young adults. ...Most patients …
Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome.
Choi HS, Ko A, Kim SH, Lee ST, Choi JR, Lee JS, Kim HD, Kang HC. Choi HS, et al. Epilepsia. 2021 Jul;62(7):1656-1664. doi: 10.1111/epi.16924. Epub 2021 May 19. Epilepsia. 2021. PMID: 34008866
However, after the exponential discovery of genes with mutations responsible for developmental and epileptic encephalopathy (DEE), a significant proportion of patients with a previously unknown etiology have been reclassified as having a genetic etiology, req …
However, after the exponential discovery of genes with mutations responsible for developmental and epileptic encephalopathy …
Management of Menstrual and Gynecologic Concerns in Girls with Special Needs.
Dural Ö, Taş İS, Akhan SE. Dural Ö, et al. J Clin Res Pediatr Endocrinol. 2020 Feb 6;12(Suppl 1):41-45. doi: 10.4274/jcrpe.galenos.2019.2019.S0174. J Clin Res Pediatr Endocrinol. 2020. PMID: 32041391 Free PMC article.
For girls with physical and developmental disabilities and their families/caregivers, puberty and menstruation can present significant problems such as vulnerability, abuse risk, unintended pregnancies, difficulties with managing menstrual hygiene, abnormal uterine bleedin …
For girls with physical and developmental disabilities and their families/caregivers, puberty and menstruation can present significan …
Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.
Essajee F, Urban M, Smit L, Wilmshurst JM, Solomons R, van Toorn R, Moosa S. Essajee F, et al. Seizure. 2022 Oct;101:197-204. doi: 10.1016/j.seizure.2022.09.001. Epub 2022 Sep 2. Seizure. 2022. PMID: 36084525 Free article.
OBJECTIVES: The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental disorders, characterised by early-onset seizures that are often intractable, electroencephalographic abnormalities, and developmental …
OBJECTIVES: The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental …
20 results