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Year Number of Results
1989 1
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2005 1
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2013 3
2015 5
2016 3
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2022 1
2023 3
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Page 1
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Cox DM, Butler MG. Cox DM, et al. Int J Mol Sci. 2015 Feb 13;16(2):4068-82. doi: 10.3390/ijms16024068. Int J Mol Sci. 2015. PMID: 25689425 Free PMC article. Review.
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. ...Review of clinical features from about 200 individuals were grouped into five categories and included development …
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and p …
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S, De Liso P, Freri E, Costa P, Castellotti B, Magri S, Gellera C, Granata T, Musante L, Lesca G, Oertel J, Craiu D, Hammer TB, Møller RS, Barisic N, Abou Jamra R, Polster T, Vigevano F, Marini C. Matricardi S, et al. Epilepsia. 2020 Nov;61(11):2474-2485. doi: 10.1111/epi.16699. Epub 2020 Oct 16. Epilepsia. 2020. PMID: 33063863 Review.
SIGNIFICANCE: Autosomal recessive pathogenic variants in SLC13A5 are associated with a distinct neonatal epileptic encephalopathy evolving into severe cognitive and motor impairment, yet with seizures that settle down in late childhood. Tooth hypoplasia or hypodonti …
SIGNIFICANCE: Autosomal recessive pathogenic variants in SLC13A5 are associated with a distinct neonatal epileptic encephalopathy …
Involvement of microRNAs in epileptogenesis.
Cattani AA, Allene C, Seifert V, Rosenow F, Henshall DC, Freiman TM. Cattani AA, et al. Epilepsia. 2016 Jul;57(7):1015-26. doi: 10.1111/epi.13404. Epub 2016 May 21. Epilepsia. 2016. PMID: 27207608 Free article. Review.
Patients who have sustained brain injury or had developmental brain lesions present a non-negligible risk for developing delayed epilepsy. ...Noncoding microRNA molecules (miRNAs) are promising candidates in this area. Indeed, deregulation of diverse …
Patients who have sustained brain injury or had developmental brain lesions present a non-negligible risk for developin …
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 …
New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
Alagoz M, Kherad N, Bozkurt S, Yuksel A. Alagoz M, et al. Acta Biochim Pol. 2020 Sep 15;67(3):431-434. doi: 10.18388/abp.2020_5364. Acta Biochim Pol. 2020. PMID: 32931186 Free article. Review.
PURPOSE: Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with early-onset and characterised by severe electroencephalogram abnormalities, seizures, developmental delay and intellectual disability. ...Fur …
PURPOSE: Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with early-on …
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 analysis also revealed a significantly increased percentage of N2 sleep and decreased sleep efficiency in children with epilepsy compared to healthy children. These results illustrate that children with epilepsy are vulnerable to more sleep difficulties compared …
The analysis also revealed a significantly increased percentage of N2 sleep and decreased sleep efficiency in children with epilepsy …
Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.
Jacob J. Jacob J. Epilepsia. 2016 Feb;57(2):182-93. doi: 10.1111/epi.13272. Epub 2015 Dec 19. Epilepsia. 2016. PMID: 26682992 Free article. Review.
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrate substantial heritability. ...Candidate gene identification has facilitated the development of mouse genetic models, which in parallel with …
Autism and epilepsy are two associated disorders that are highly prevalent, share common developmental origins, and demonstrat …
[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
Ye YZ, Duan J, Hu ZQ, Cao DZ, Liao JX, Chen L. Ye YZ, et al. Zhonghua Er Ke Za Zhi. 2022 Jun 2;60(6):583-587. doi: 10.3760/cma.j.cn112140-20211126-00994. Zhonghua Er Ke Za Zhi. 2022. PMID: 35658367 Review. Chinese.
Objective: To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation. ...Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epilepti …
Objective: To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by …
Epilepsy and recommendations for breastfeeding.
Veiby G, Bjørk M, Engelsen BA, Gilhus NE. Veiby G, et al. Seizure. 2015 May;28:57-65. doi: 10.1016/j.seizure.2015.02.013. Epub 2015 Mar 16. Seizure. 2015. PMID: 25837494 Free article. Review.
Still, adverse symptoms are rarely reported in breastfed infants of mothers taking AEDs, and prospective studies have failed to demonstrate any negative developmental effects in children that have been exposed to AEDs via breastmilk. ...CONCLUSION: Most AEDs are considered …
Still, adverse symptoms are rarely reported in breastfed infants of mothers taking AEDs, and prospective studies have failed to demonstrate …
Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis.
Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A. Arfaie S, et al. Seizure. 2023 Mar;106:58-67. doi: 10.1016/j.seizure.2023.01.020. Epub 2023 Feb 1. Seizure. 2023. PMID: 36774775 Free article. Review.
The mean long-term difference between pre- and post- operative FSIQ scores across all studies was noted at 3.36 [95% CI: (0.14, 6.57), p = 0.04, I2 = 0%] and heterogeneity was low. CONCLUSION: To our knowledge, this is the first meta-analysis to measure the long-term impac …
The mean long-term difference between pre- and post- operative FSIQ scores across all studies was noted at 3.36 [95% CI: (0.14, 6.57) …
25 results