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1989 1
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2014 5
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42 results

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Page 1
Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders.
Hill SF, Meisler MH. Hill SF, et al. Dev Neurosci. 2021;43(3-4):247-252. doi: 10.1159/000517686. Epub 2021 Aug 5. Dev Neurosci. 2021. PMID: 34412058 Free PMC article. Review.
An ASO that reduces the abundance of the SCN8A mRNA is therapeutic in mouse models of developmental and epileptic encephalopathy. These examples demonstrate the variety of mechanisms and range of applications of ASOs for treatment of neurodevelopmental disord …
An ASO that reduces the abundance of the SCN8A mRNA is therapeutic in mouse models of developmental and epileptic encephalo
Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy.
Aziz MC, Schneider PN, Carvill GL. Aziz MC, et al. Dev Neurosci. 2021;43(3-4):241-246. doi: 10.1159/000516143. Epub 2021 May 10. Dev Neurosci. 2021. PMID: 33971653 Free article. Review.
Developmental and epileptic encephalopathies (DEEs) describe a subset of neurodevelopmental disorders categorized by refractory epilepsy that is often associated with intellectual disability and autism spectrum disorder. ...
Developmental and epileptic encephalopathies (DEEs) describe a subset of neurodevelopmental disorders categorized by re
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R, Jain P, RamachandranNair R, Jones KC, Kiani H, Tarnopolsky M, Meaney B. Whitney R, et al. Epilepsia Open. 2023 Jun;8(2):623-632. doi: 10.1002/epi4.12747. Epub 2023 Apr 24. Epilepsia Open. 2023. PMID: 37067065 Free PMC article. Review.
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. ...Epil
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition char …
Sleep disruption in children and adolescents with epilepsy: A systematic review and meta-analysis.
Winsor AA, Richards C, Bissell S, Seri S, Liew A, Bagshaw AP. Winsor AA, et al. Sleep Med Rev. 2021 Jun;57:101416. doi: 10.1016/j.smrv.2021.101416. Epub 2021 Jan 19. Sleep Med Rev. 2021. PMID: 33561679 Review.
The meta-analysis included 19 studies comparing a total of 901 children with epilepsy to 1470 healthy children. Relative to healthy children, children with epilepsy experienced reduced sleep time, sleeping on average 34 mins less across self-report, actigraph …
The meta-analysis included 19 studies comparing a total of 901 children with epilepsy to 1470 healthy children. Relative to healthy c …
The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.
Whitney R, Choi E, Jones KC. Whitney R, et al. Seizure. 2023 Mar;106:8-13. doi: 10.1016/j.seizure.2023.01.014. Epub 2023 Jan 23. Seizure. 2023. PMID: 36701889 Free article. Review.
BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. ...Initial MRI was comp …
BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition charac …
Fenfluramine for the Treatment of Dravet Syndrome and Lennox-Gastaut Syndrome.
Balagura G, Cacciatore M, Grasso EA, Striano P, Verrotti A. Balagura G, et al. CNS Drugs. 2020 Oct;34(10):1001-1007. doi: 10.1007/s40263-020-00755-z. CNS Drugs. 2020. PMID: 32875491 Review.
However, some conditions remain a challenge for epileptologists, especially Dravet syndrome and Lennox-Gastaut syndrome, which are severe epileptic and developmental encephalopathies characterized by multiple seizure types and electroencephalographic abnormal …
However, some conditions remain a challenge for epileptologists, especially Dravet syndrome and Lennox-Gastaut syndrome, which are severe …
Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders.
Springer K, Varghese N, Tzingounis AV. Springer K, et al. Dev Neurosci. 2021;43(3-4):191-200. doi: 10.1159/000515495. Epub 2021 Apr 1. Dev Neurosci. 2021. PMID: 33794528 Free PMC article. Review.
KCNQ2 and KCNQ3 pathogenic channel variants have been associated with a spectrum of developmentally regulated diseases that vary in age of onset, severity, and whether it is transient (i.e., benign familial neonatal seizures) or long-lasting (i.e., developmental
KCNQ2 and KCNQ3 pathogenic channel variants have been associated with a spectrum of developmentally regulated diseases that va …
Current Approaches and Future Directions for the Treatment of mTORopathies.
Karalis V, Bateup HS. Karalis V, et al. Dev Neurosci. 2021;43(3-4):143-158. doi: 10.1159/000515672. Epub 2021 Apr 28. Dev Neurosci. 2021. PMID: 33910214 Free PMC article. Review.
While these disorders can affect multiple organs, neuropsychiatric conditions such as epilepsy, intellectual disability, and autism spectrum disorder have a major impact on quality of life. ...Animal models of mTORopathies have helped unravel the consequences of mTOR pathw …
While these disorders can affect multiple organs, neuropsychiatric conditions such as epilepsy, intellectual disability, and autism s …
Epilepsy-related clinical characteristics and mortality: a systematic review and meta-analysis.
Nevalainen O, Ansakorpi H, Simola M, Raitanen J, Isojärvi J, Artama M, Auvinen A. Nevalainen O, et al. Neurology. 2014 Nov 18;83(21):1968-77. doi: 10.1212/WNL.0000000000001005. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339211 Review.
OBJECTIVE: We systematically synthesized the epidemiologic literature on mortality in patients with epilepsy (PWE) by epilepsy-related clinical characteristics with an aggregate data meta-analysis. ...CONCLUSION: Excess mortality was highly related to the etiology o …
OBJECTIVE: We systematically synthesized the epidemiologic literature on mortality in patients with epilepsy (PWE) by epilepsy
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.
Schoonjans AS, Meuwissen M, Reyniers E, Kooy F, Ceulemans B. Schoonjans AS, et al. Eur J Paediatr Neurol. 2016 May;20(3):474-9. doi: 10.1016/j.ejpn.2016.01.002. Epub 2016 Jan 13. Eur J Paediatr Neurol. 2016. PMID: 26818157 Review.
BACKGROUND: Biallelic loss-of-function mutations of phospholipase C-beta1 (PLCB1) have been described in three children with an early onset epileptic encephalopathy (EE). In two of them a homozygous deletion of the promotor and first three coding exons was found. Th …
BACKGROUND: Biallelic loss-of-function mutations of phospholipase C-beta1 (PLCB1) have been described in three children with an early onset …
42 results