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Page 1
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop my …
Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis mult …
GRIN2D/GluN2D NMDA receptor: Unique features and its contribution to pediatric developmental and epileptic encephalopathy.
Camp CR, Yuan H. Camp CR, et al. Eur J Paediatr Neurol. 2020 Jan;24:89-99. doi: 10.1016/j.ejpn.2019.12.007. Epub 2019 Dec 18. Eur J Paediatr Neurol. 2020. PMID: 31918992 Free PMC article. Review.
However, when NMDAR subunits are mutated, a host of neuropathological conditions can occur, including epilepsy. Recently, genetic variation within the GRIN2D gene, which encodes the GluN2D subunit of the NMDAR, has been associated with a set of early-onset neurological …
However, when NMDAR subunits are mutated, a host of neuropathological conditions can occur, including epilepsy. Recently, genetic var …
Pharmacotherapy of epilepsy: newly approved and developmental agents.
Stephen LJ, Brodie MJ. Stephen LJ, et al. CNS Drugs. 2011 Feb;25(2):89-107. doi: 10.2165/11584860-000000000-00000. CNS Drugs. 2011. PMID: 21254787 Review.
Mixed results have been obtained in phase III studies in patients with partial-onset seizures, and further trials in children, patients with photosensitive epilepsy and patients with partial-onset seizures are ongoing. Dizziness, headache and somnolence are the most common …
Mixed results have been obtained in phase III studies in patients with partial-onset seizures, and further trials in children, patients with …
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF, Deng J, Fang F, Li H, Wang XH, Dai LF. Jiang HF, et al. Zhonghua Er Ke Za Zhi. 2020 Nov 2;58(11):893-899. doi: 10.3760/cma.j.cn112140-20200716-00729. Zhonghua Er Ke Za Zhi. 2020. PMID: 33120460 Review. Chinese.
Objective: To summarize the clinical features of two early onset epileptic encephalopathy (EOEE) patients with arginyl-tRNA synthetase (RARS2) gene variations and to review related literature. ...Excluded cases with incomplete data together with these two cases, a t …
Objective: To summarize the clinical features of two early onset epileptic encephalopathy (EOEE) patients with arginyl-tRNA sy …
14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?
Bertossi C, Cassina M, De Palma L, Vecchi M, Rossato S, Toldo I, Donà M, Murgia A, Boniver C, Sartori S. Bertossi C, et al. Brain Dev. 2014 May;36(5):402-7. doi: 10.1016/j.braindev.2013.06.008. Epub 2013 Jul 6. Brain Dev. 2014. PMID: 23838309 Review.
INTRODUCTION: Duplications of 14q12 encompassing FOXG1 gene have been recently associated with developmental delay, severe speech impairment, epilepsy, aspecific neuroimaging findings and minor dysmorphisms. ...CONCLUSIONS: The review of the available data allowed t …
INTRODUCTION: Duplications of 14q12 encompassing FOXG1 gene have been recently associated with developmental delay, severe speech imp …
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 …