Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2012 1
2014 1
2017 1
2018 1
2020 1
2021 2
2022 3
2023 2
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. Liu W, et al. Dev Med Child Neurol. 2023 Apr;65(4):534-543. doi: 10.1111/dmcn.15414. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175372 Free article.
Mild-to-severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed with epileptic encephalopathy with continuous spikes and waves during slow sleep (CSWS). ...Most patients had a MCD and dev …
Mild-to-severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed …
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.
Genetic diagnosis was associated with neonatal seizure onset versus infantile seizure onset (14 [74%] of 19 vs 29 [36%] of 81; p=0.0027), referral setting (12 [71%] of 17 for intensive care, 19 [44%] of 43 non-intensive care inpatient, and 12 [28%] of 40 outpatient; …
Genetic diagnosis was associated with neonatal seizure onset versus infantile seizure onset (14 [74%] of 19 vs 29 [36%] of 81; p=0.0027), re …
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.
There were no differences in the median (p(25)-p(75)) time to first benzodiazepine (BZD) (20 [5-52.5] vs 15 [5-38] minutes, p = 0.3919), time to first non-BZD antiseizure medication (68 [34.5-163.5] vs 65 [33-142] minutes, p = 0.7328), and time to first continuous infusion …
There were no differences in the median (p(25)-p(75)) time to first benzodiazepine (BZD) (20 [5-52.5] vs 15 [5-38] minutes, p = 0.3919), tim …
A study of drug-resistant childhood epilepsy testing the new ILAE criteria.
Ramos-Lizana J, Rodriguez-Lucenilla MI, Aguilera-López P, Aguirre-Rodríguez J, Cassinello-García E. Ramos-Lizana J, et al. Seizure. 2012 May;21(4):266-72. doi: 10.1016/j.seizure.2012.01.009. Epub 2012 Feb 12. Seizure. 2012. PMID: 22333178 Free article.
The probabilities of achieving seizure freedom, according to the ILAE criteria, with the first, second, third and fourth and subsequent therapeutic regimens were 65%, 29%, 27% and 21%, respectively. In the cohort, 87 patients met the criteria for drug-resistant e …
The probabilities of achieving seizure freedom, according to the ILAE criteria, with the first, second, third and fourth and subsequent t …
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.
Du X, Wang J, Li S, Ma Y, Wang T, Wu B, Zhou Y, Yu L, Wang Y. Du X, et al. Genes (Basel). 2022 Aug 14;13(8):1447. doi: 10.3390/genes13081447. Genes (Basel). 2022. PMID: 36011358 Free PMC article.
The top three resources invested in caring for AS children are: daily involvement in patient care, rehabilitation cost, and anti-epileptic treatment. Our study showed the genetic composition of Chinese children with 83.02% of maternal deletions, and the mutation spe …
The top three resources invested in caring for AS children are: daily involvement in patient care, rehabilitation cost, and anti-e …
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 …
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498 Free PMC article.
Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. ...The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy …
Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive ne …
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 …
Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response.
Chourasia N, Yuskaitis CJ, Libenson MH, Bergin AM, Liu S, Zhang B, Poduri A, Harini C. Chourasia N, et al. Epilepsia. 2022 May;63(5):1164-1176. doi: 10.1111/epi.17209. Epub 2022 Mar 18. Epilepsia. 2022. PMID: 35211955
No difference in treatment response was observed between acquired and nonacquired etiologies. Among patients with nonacquired etiologies, developmental delay prior to spasms onset increased the odds of unfavorable treatment outcome (p = .014), whereas a clearly recognizabl …
No difference in treatment response was observed between acquired and nonacquired etiologies. Among patients with nonacquired etiologies, …
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG. Bromley R, et al. Cochrane Database Syst Rev. 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. Cochrane Database Syst Rev. 2014. PMID: 25354543 Free PMC article. Review.
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials were selected for inclusion. Participants were women with epilepsy taking AED treatment; the two control groups were women without e …
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials we …
14 results