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1995 3
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2002 5
2013 1
2014 1
2015 2
2016 2
2019 2
2020 8
2021 8
2022 3
2023 3
2024 1

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32 results

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Page 1
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Mizuguchi M, et al. Brain Dev. 2021 Jan;43(1):2-31. doi: 10.1016/j.braindev.2020.08.001. Epub 2020 Aug 20. Brain Dev. 2021. PMID: 32829972 Review.
Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/encephalopathy with reversible splenial lesion. ...In …
Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with …
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 …
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 …
Epilepsy in Angelman syndrome: A scoping review.
Samanta D. Samanta D. Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32893075 Free PMC article. Review.
Intractable epileptic seizures since early childhood with characteristic EEG abnormalities are present in 80-90% patients with AS. Underlying pathophysiology may involve neocortical and thalamocortical hyperexcitability secondary to severe reduction of GABAergic input, as …
Intractable epileptic seizures since early childhood with characteristic EEG abnormalities are present in 80-90% patients with AS. Un …
ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.
Thompson PM, Jahanshad N, Ching CRK, Salminen LE, Thomopoulos SI, Bright J, Baune BT, Bertolín S, Bralten J, Bruin WB, Bülow R, Chen J, Chye Y, Dannlowski U, de Kovel CGF, Donohoe G, Eyler LT, Faraone SV, Favre P, Filippi CA, Frodl T, Garijo D, Gil Y, Grabe HJ, Grasby KL, Hajek T, Han LKM, Hatton SN, Hilbert K, Ho TC, Holleran L, Homuth G, Hosten N, Houenou J, Ivanov I, Jia T, Kelly S, Klein M, Kwon JS, Laansma MA, Leerssen J, Lueken U, Nunes A, Neill JO, Opel N, Piras F, Piras F, Postema MC, Pozzi E, Shatokhina N, Soriano-Mas C, Spalletta G, Sun D, Teumer A, Tilot AK, Tozzi L, van der Merwe C, Van Someren EJW, van Wingen GA, Völzke H, Walton E, Wang L, Winkler AM, Wittfeld K, Wright MJ, Yun JY, Zhang G, Zhang-James Y, Adhikari BM, Agartz I, Aghajani M, Aleman A, Althoff RR, Altmann A, Andreassen OA, Baron DA, Bartnik-Olson BL, Marie Bas-Hoogendam J, Baskin-Sommers AR, Bearden CE, Berner LA, Boedhoe PSW, Brouwer RM, Buitelaar JK, Caeyenberghs K, Cecil CAM, Cohen RA, Cole JH, Conrod PJ, De Brito SA, de Zwarte SMC, Dennis EL, Desrivieres S, Dima D, Ehrlich S, Esopenko C, Fairchild G, Fisher SE, Fouche JP, Francks C, Frangou S, Franke B, Garavan HP, Glahn DC, Groenewold NA, Gurholt T… See abstract for full author list ➔ Thompson PM, et al. Transl Psychiatry. 2020 Mar 20;10(1):100. doi: 10.1038/s41398-020-0705-1. Transl Psychiatry. 2020. PMID: 32198361 Free PMC article. Review.
This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale ge …
This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global al …
The concept of disease modification.
Cross JH, Lagae L. Cross JH, et al. Eur J Paediatr Neurol. 2020 Jan;24:43-46. doi: 10.1016/j.ejpn.2019.12.005. Epub 2019 Dec 17. Eur J Paediatr Neurol. 2020. PMID: 31879224 Review.
Traditionally treatment of epileptic seizures has been symptomatic, namely medication has been targeted at raising the threshold to the occurrence of epileptic seizures. ...The advent of advanced neuroimaging and genomics has revealed the cause of the epilepsy …
Traditionally treatment of epileptic seizures has been symptomatic, namely medication has been targeted at raising the threshold to t …
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 …
Hyaline protoplasmic astrocytopathy in epilepsy.
Magaki S, Haeri M, Szymanski LJ, Chen Z, Diaz R, Williams CK, Chang JW, Ao Y, Newell KL, Khanlou N, Yong WH, Fallah A, Salamon N, Daniel T, Cotter J, Hawes D, Sofroniew M, Vinters HV. Magaki S, et al. Neuropathology. 2023 Dec;43(6):441-456. doi: 10.1111/neup.12909. Epub 2023 May 17. Neuropathology. 2023. PMID: 37198977 Review.
It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal cortical dysplasia (FCD), but the nature and significance of these inclusions are unclear. In this study, we review the clinical and patholog …
It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal c …
'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.
Simkin D, Ambrosi C, Marshall KA, Williams LA, Eisenberg J, Gharib M, Dempsey GT, George AL Jr, McManus OB, Kiskinis E. Simkin D, et al. Trends Pharmacol Sci. 2022 May;43(5):392-405. doi: 10.1016/j.tips.2022.03.001. Trends Pharmacol Sci. 2022. PMID: 35427475 Free PMC article. Review.
These technologies are particularly well suited for the study of diseases with strong monogenic etiologies. Epilepsy is one of the most common neurological disorders in children, with approximately half of all genetic cases caused by mutations in ion channel genes. …
These technologies are particularly well suited for the study of diseases with strong monogenic etiologies. Epilepsy is one of …
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW. Yang S, et al. Neurol Sci. 2022 Aug;43(8):5039-5048. doi: 10.1007/s10072-022-06038-3. Epub 2022 Mar 29. Neurol Sci. 2022. PMID: 35352205 Review.
BACKGROUND: Developmental and epileptic encephalopathy (DEE) exhibits phenotypic and genetic heterogeneity. ...Through the literature review, we observed that 27 patients with DEE had different degrees of intellectual and developmental disorders (DDs), …
BACKGROUND: Developmental and epileptic encephalopathy (DEE) exhibits phenotypic and genetic heterogeneity. ...Through …
32 results