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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 71"
Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the …
Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or a …
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
IMPORTANCE: Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling. ...The proportion of the cohort with diagnostic findings, the genes involved, and …
IMPORTANCE: Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influ …
Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.
Liu Q, Ma J, Yu G, Zhang Q, Zhu Y, Wang R, Yu H, Liu C, Sun Y, Wang W, Wang S, Ji T, Li M, Liu X, Jiang Y, Cai L, Wu Y. Liu Q, et al. Seizure. 2021 Nov;92:29-35. doi: 10.1016/j.seizure.2021.08.006. Epub 2021 Aug 14. Seizure. 2021. PMID: 34416421 Free article.
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after surgery. ...After surgery, the proportion of catch-up, stabilization, and regression in both short- and long-term DQ was approximately 40%, …
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after …
Angioarchitecture and prognosis of pediatric intracranial pial arteriovenous fistula.
Li J, Ji Z, Yu J, Ren J, Yang F, Bian L, Zhi X, Li G, Zhang H. Li J, et al. Stroke Vasc Neurol. 2023 Aug;8(4):292-300. doi: 10.1136/svn-2022-001979. Epub 2023 Jan 6. Stroke Vasc Neurol. 2023. PMID: 36609545 Free PMC article.
RESULTS: Their mean age was 4.93.9 years, and the mean preoperative modified Rankin Scale (mRS) score was 1.641.57. Fourteen patients (33.3%) were asymptomatic, followed by epilepsy (21.4%), intracranial haemorrhage (16.7%), hydrocephalus (9.5%), developmental delay …
RESULTS: Their mean age was 4.93.9 years, and the mean preoperative modified Rankin Scale (mRS) score was 1.641.57. Fourteen patients (33.3% …
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. ...Our genotype-phenotype correlation fac …
RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIG …
What do you do when they grow up? Approaches to seizures in developmentally delayed adults.
Devinsky O. Devinsky O. Epilepsia. 2002;43 Suppl 3:71-9. doi: 10.1046/j.1528-1157.43.s.3.2.x. Epilepsia. 2002. PMID: 12060009 Free article. Review.
Epilepsy and developmental disabilities (DD) often occur together but affect individuals differently and have a complex causal relationship. Most epilepsy in the population with DD is partial or symptomatic generalized. ...
Epilepsy and developmental disabilities (DD) often occur together but affect individuals differently and have a complex causal …
Clinical applications: MRI, SPECT, and PET.
Spencer SS, Theodore WH, Berkovic SF. Spencer SS, et al. Magn Reson Imaging. 1995;13(8):1119-24. doi: 10.1016/0730-725x(95)02021-k. Magn Reson Imaging. 1995. PMID: 8750325 Free article. Review.
MRI, PET, and SPECT are all used to image abnormalities in the epileptic brain. Comparison of the techniques is difficult because they measure different aspects of the epileptic process--structure, metabolism, and perfusion. ...A literature review of imaging …
MRI, PET, and SPECT are all used to image abnormalities in the epileptic brain. Comparison of the techniques is difficult beca …
Short-term Seizure Outcomes in Childhood Epilepsy.
Aaberg KM, Bakken IJ, Lossius MI, Lund Søraas C, Tallur KK, Stoltenberg C, Chin R, Surén P. Aaberg KM, et al. Pediatrics. 2018 Jun;141(6):e20174016. doi: 10.1542/peds.2017-4016. Epub 2018 May 22. Pediatrics. 2018. PMID: 29789444
In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% have drug-resistant epilepsy. ...Having an identified cause of epilepsy (genetic, structural, metabolic, or infectious) was as …
In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% …
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Genetic diagnosis was associated with neonatal seizure onset versus infantile seizure onset (14 [74%] of 19 vs 29 [36%] of 81; p=0.0027), referral setting (12 [71%] of 17 for intensive care, 19 [44%] of 43 non-intensive care inpatient, and 12 [28%] of 40 outpatient; p=0.0178), an …
Genetic diagnosis was associated with neonatal seizure onset versus infantile seizure onset (14 [74%] of 19 vs 29 [36%] of 81; p=0.0027), re …
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
Clinical phenotype of 26 individuals (median 12 years, range 1.8-33.4 years) showed a diversifying course in follow-up: 77% behavioral problems, 76% coordination problems, 73% speech disorders, 58% epileptic seizures and 40% movement disorders. After ataxia, dystoni …
Clinical phenotype of 26 individuals (median 12 years, range 1.8-33.4 years) showed a diversifying course in follow-up: 77% behaviora …
88 results