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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 52"
Page 1
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, Chassoux F, Hamer H, Stefan H, Rössler K, Thom M, Walker MC, Sisodiya SM, Duncan JS, McEvoy AW, Pieper T, Holthausen H, Kudernatsch M, Meencke HJ, Kahane P, Schulze-Bonhage A, Zentner J, Heiland DH, Urbach H, Steinhoff BJ, Bast T, Tassi L, Lo Russo G, Özkara C, Oz B, Krsek P, Vogelgesang S, Runge U, Lerche H, Weber Y, Honavar M, Pimentel J, Arzimanoglou A, Ulate-Campos A, Noachtar S, Hartl E, Schijns O, Guerrini R, Barba C, Jacques TS, Cross JH, Feucht M, Mühlebner A, Grunwald T, Trinka E, Winkler PA, Gil-Nagel A, Toledano Delgado R, Mayer T, Lutz M, Zountsas B, Garganis K, Rosenow F, Hermsen A, von Oertzen TJ, Diepgen TL, Avanzini G; EEBB Consortium. Blumcke I, et al. N Engl J Med. 2017 Oct 26;377(17):1648-1656. doi: 10.1056/NEJMoa1703784. N Engl J Med. 2017. PMID: 29069555 Free article.
BACKGROUND: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy. METHODS: We report the diagnoses made on the basis of resected brain specimens from 9523 patien …
BACKGROUND: Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding …
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.
Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, Vestergaard M. Christensen J, et al. JAMA. 2013 Apr 24;309(16):1696-703. doi: 10.1001/jama.2013.2270. JAMA. 2013. PMID: 23613074 Free PMC article.
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. ...CONCLUSIONS AND RELEVANCE: Maternal use of valproate during pregnancy was associated with a signi …
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment opti …
Different Clinical Expression of Anxiety Disorders in Children and Adolescents: Assessment and Treatment.
Pop-Jordanova N. Pop-Jordanova N. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2019 May 1;40(1):5-40. doi: 10.2478/prilozi-2019-0001. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2019. PMID: 31152643 Free article.
The difference between normal worry and an anxiety disorder is in the severity and in the interference with everyday life and normal developmental steps. Many longitudinal studies in children suggest that anxiety disorders are relatively stable over time and predict anxiet …
The difference between normal worry and an anxiety disorder is in the severity and in the interference with everyday life and normal deve …
The core Dravet syndrome phenotype.
Dravet C. Dravet C. Epilepsia. 2011 Apr;52 Suppl 2:3-9. doi: 10.1111/j.1528-1167.2011.02994.x. Epilepsia. 2011. PMID: 21463272 Free article. Review.
Later on, multiple seizure types, mainly myoclonic, atypical absences, and focal seizures appear, as well as a slowing of developmental and cognitive skills, and the appearance of behavioral disorders. ...All seizure types are pharmacoresistent, but a trend toward less sev …
Later on, multiple seizure types, mainly myoclonic, atypical absences, and focal seizures appear, as well as a slowing of developmental …
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with …
Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to gen …
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with …
OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar h …
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
Cluster analysis (optimal number 3 clusters) identified a cluster with early seizure onset and early developmental delay (developmental and epileptic encephalopathy, n = 26), a cluster with early developmental delay but late seizure onset (ID wi …
Cluster analysis (optimal number 3 clusters) identified a cluster with early seizure onset and early developmental delay (developm …
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A, Sculier C, Bouza AA, Askar B, Lederer D, Schoonjans AS, Vander Ghinst M, Ceulemans B, Offord J, Lopez-Santiago LF, Isom LL. Aeby A, et al. Ann Clin Transl Neurol. 2019 Dec;6(12):2354-2367. doi: 10.1002/acn3.50921. Epub 2019 Nov 11. Ann Clin Transl Neurol. 2019. PMID: 31709768 Free PMC article.
OBJECTIVE: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage-gated sodium channel (VGSC) beta1 and beta1B non-pore-forming subunits. ...The patient phenotype is more co …
OBJECTIVE: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the …
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S, Karp N, Zapata-Aldana E, Sadikovic B, Yang P, Balci TB, Prasad AN. Lee S, et al. Can J Neurol Sci. 2021 Mar;48(2):233-244. doi: 10.1017/cjn.2020.167. Epub 2020 Aug 3. Can J Neurol Sci. 2021. PMID: 32741404 Review.
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children's Hospital, London, Ontario, Canada. ...RESULTS: In total, 105 children (52.38% male …
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy …
The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis.
Vasilica AM, Winsor A, Chari A, Scott R, Baldeweg T, Tisdall M. Vasilica AM, et al. Epilepsy Res. 2023 May;192:107132. doi: 10.1016/j.eplepsyres.2023.107132. Epub 2023 Mar 30. Epilepsy Res. 2023. PMID: 37023554 Free article. Review.
INTRODUCTION: Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy-associated tumours (LEAT), can benefit from epilepsy surgery. ...Age at epilepsy surgery, type of surgery and epilepsy …
INTRODUCTION: Carefully selected patients with lesional epilepsy, including focal cortical dysplasia (FCD) and long-term epilepsy …
119 results