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Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies.
Strzelczyk A, Schubert-Bast S. Strzelczyk A, et al. CNS Drugs. 2021 Jan;35(1):61-83. doi: 10.1007/s40263-020-00784-8. Epub 2021 Jan 21. CNS Drugs. 2021. PMID: 33479851 Free PMC article. Review.
Lennox-Gastaut syndrome (LGS), a childhood-onset severe developmental and epileptic encephalopathy (DEE), is an entity that encompasses a heterogenous group of aetiologies, with no single genetic cause. ...These therapies have demonstrated reductions i …
Lennox-Gastaut syndrome (LGS), a childhood-onset severe developmental and epileptic encephalopathy (DEE), is an entity …
Targeting Sigma Receptors for the Treatment of Neurodegenerative and Neurodevelopmental Disorders.
Malar DS, Thitilertdecha P, Ruckvongacheep KS, Brimson S, Tencomnao T, Brimson JM. Malar DS, et al. CNS Drugs. 2023 May;37(5):399-440. doi: 10.1007/s40263-023-01007-6. Epub 2023 May 11. CNS Drugs. 2023. PMID: 37166702 Free PMC article. Review.
As such, they have become targets for treating neurological diseases, including Alzheimer's disease (AD), Huntington's disease (HD), Parkinson's disease (PD), multiple sclerosis (MS), Rett syndrome (RS), developmental and epileptic encephalopathies (DE …
As such, they have become targets for treating neurological diseases, including Alzheimer's disease (AD), Huntington's disease (HD), …
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.
For 43 (43% [binomial distribution 95% CI 33-53]) of 100 infants, we identified genetic diagnoses, with a median time from seizure onset to rapid genome sequencing result of 37 days (IQR 25-59). Genetic diagnosis was associated with neonatal seizure onset versus infantile …
For 43 (43% [binomial distribution 95% CI 33-53]) of 100 infants, we identified genetic diagnoses, with a median time from seizure onset to …
Response to treatment and outcomes of infantile spasms in Down syndrome.
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group. Harvey S, et al. Dev Med Child Neurol. 2022 Jun;64(6):780-788. doi: 10.1111/dmcn.15153. Epub 2022 Jan 29. Dev Med Child Neurol. 2022. PMID: 35092693 Free PMC article.
The most common first-line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days …
The most common first-line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At …
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K, Böhrer-Rabel H, Caro-Llopis A, Cole T, Distelmaier F, Edery P, Ferreira CR, Jezela-Stanek A, Kerr B, Kluger G, Krawitz PM, Kuhn M, Lemke JR, Lesca G, Lynch SA, Martinez F, Maxton C, Mierzewska H, Monfort S, Nicolai J, Orellana C, Pal DK, Płoski R, Quarrell OW, Rosello M, Rydzanicz M, Sabir A, Śmigiel R, Stegmann APA, Stewart H, Stumpel C, Szczepanik E, Tzschach A, Wolfe L, Taylor JC, Murakami Y, Kinoshita T, Bayat A, Kini U. Loong L, et al. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2. Genet Med. 2023. PMID: 36322149 Free article.
No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final e …
No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p …
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.
Ream MA, Mikati MA. Ream MA, et al. Epilepsy Behav. 2014 Aug;37:241-8. doi: 10.1016/j.yebeh.2014.06.018. Epub 2014 Aug 9. Epilepsy Behav. 2014. PMID: 25108116
RESULTS: We were more likely to perform genetic testing in patients with developmental delay, epileptic encephalopathy, and generalized epilepsy. ...Three patients were incidentally found to be carriers of recessive neurologic diseases (10.3%). …
RESULTS: We were more likely to perform genetic testing in patients with developmental delay, epileptic encephalopathy, …
Infantile Spasms and Injuries of Prematurity: Short-Term Treatment-Based Response and Long-Term Outcomes.
Wallace A, Allen V, Park K, Knupp K. Wallace A, et al. J Child Neurol. 2017 Sep;32(10):861-866. doi: 10.1177/0883073817712587. Epub 2017 Jun 21. J Child Neurol. 2017. PMID: 28635418
Follow-up after a median of 7.1 years found that all patients had developmental delay but only 1 had refractory epilepsy. Standard therapies (ACTH and vigabatrin) appeared to be more effective than other treatments. Developmental delay is common in chi …
Follow-up after a median of 7.1 years found that all patients had developmental delay but only 1 had refractory epilepsy. Stan …
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. ...RESULTS: The most common diagnosis was Lennox-Gastaut syndrome (37.4%) followed by Dravet syndrome (16.5%) and tuberous sclerosis complex (16.5%). …
BACKGROUND: Drug-resistant epilepsy (DRE) affects the development and quality of life of children and young adults. ...RESULTS: The m …
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.
Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, Kim HD, Lee ST, Kang HC. Ko A, et al. Epilepsy Res. 2018 Mar;141:48-55. doi: 10.1016/j.eplepsyres.2018.02.003. Epub 2018 Feb 12. Epilepsy Res. 2018. PMID: 29455050
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized …
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DE …
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
Perucca E, French JA, Aljandeel G, Balestrini S, Braga P, Burneo JG, Felli AC, Cross JH, Galanopoulou AS, Jain S, Jiang Y, Kälviäinen R, Lim SH, Meador KJ, Mogal Z, Nabbout R, Sofia F, Somerville E, Sperling MR, Triki C, Trinka E, Walker MC, Wiebe S, Wilmshurst JM, Wirrell E, Yacubian EM, Kapur J. Perucca E, et al. Epilepsia. 2024 Mar;65(3):533-541. doi: 10.1111/epi.17877. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279786 Review.
Terminology is important because using terms that do not accurately reflect the action of specific treatments may result in a misunderstanding of their effects and inappropriate use. The present International League Against Epilepsy (ILAE) position paper used a Delphi appr …
Terminology is important because using terms that do not accurately reflect the action of specific treatments may result in a misunderstandi …
19 results