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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 43"
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.
The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious disease, with duration and severity meeting defined criteria. Acute encephalopathy consists of multiple syndromes such as acute necro …
The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious …
Genetic testing for the epilepsies: A systematic review.
Sheidley BR, Malinowski J, Bergner AL, Bier L, Gloss DS, Mu W, Mulhern MM, Partack EJ, Poduri A. Sheidley BR, et al. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10. Epilepsia. 2022. PMID: 34893972
We performed a systematic evidence review (SER) and conducted meta-analyses of the diagnostic yield of genetic tests commonly utilized for patients with epilepsy. We also assessed nonyield outcomes (NYOs) such as changes in treatment and/or management, prognostic in …
We performed a systematic evidence review (SER) and conducted meta-analyses of the diagnostic yield of genetic tests commonly utilized for p …
Perampanel and pregnancy.
Vazquez B, Tomson T, Dobrinsky C, Schuck E, O'Brien TJ. Vazquez B, et al. Epilepsia. 2021 Mar;62(3):698-708. doi: 10.1111/epi.16821. Epilepsia. 2021. PMID: 33666943 Free PMC article.
OBJECTIVE: The objective was to summarize pregnancy and fetal/postnatal outcomes following maternal perampanel exposure using preclinical and clinical data, and to use physiologically based pharmacokinetic (PBPK) modeling to improve understanding of perampanel pharmacokinetics (P …
OBJECTIVE: The objective was to summarize pregnancy and fetal/postnatal outcomes following maternal perampanel exposure using preclinical an …
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 …
Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC. Kim HJ, et al. Brain Dev. 2021 Feb;43(2):244-250. doi: 10.1016/j.braindev.2020.08.015. Epub 2020 Sep 8. Brain Dev. 2021. PMID: 32917465
PURPOSE: KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). ...Ultimately, 12 of 13 patients became seizure-free. However, developmental outcomes were poor. CONCLUSIO …
PURPOSE: KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic …
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 neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case.
Mierzewska H, Laure-Kamionowska M, Jezela-Stanek A, Rydzanicz M, Płoski R, Szczepanik E. Mierzewska H, et al. Seizure. 2021 Dec;93:75-80. doi: 10.1016/j.seizure.2021.10.014. Epub 2021 Oct 20. Seizure. 2021. PMID: 34717289 Free article.
Developmental and epileptic encephalopathies (DEE) constitute an expanding group of severely disabling and, most frequently, drug-resistant disorders starting in the first year of life. ...We present first neuropathological findings in a novel, molecularly co …
Developmental and epileptic encephalopathies (DEE) constitute an expanding group of severely disabling and, most freque …
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F. Cossu A, et al. Epilepsy Behav. 2023 May;142:109153. doi: 10.1016/j.yebeh.2023.109153. Epub 2023 Mar 28. Epilepsy Behav. 2023. PMID: 36989566 Free article.
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). ...Notably, patients in different clusters presented differe …
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Ons …
Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children.
Räikkönen K, Gissler M, Tapiainen T, Kajantie E. Räikkönen K, et al. JAMA Netw Open. 2022 Aug 1;5(8):e2228518. doi: 10.1001/jamanetworkopen.2022.28518. JAMA Netw Open. 2022. PMID: 36001315 Free PMC article.
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticosteroid treatment and physician-diagnosed specific developmental disorders of speech and language, scholastic skills, and motor function; …
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticostero …
Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy.
Matarrese MAG, Loppini A, Fabbri L, Tamilia E, Perry MS, Madsen JR, Bolton J, Stone SSD, Pearl PL, Filippi S, Papadelis C. Matarrese MAG, et al. Brain. 2023 Sep 1;146(9):3898-3912. doi: 10.1093/brain/awad118. Brain. 2023. PMID: 37018068 Free PMC article.
Interictal spikes recorded with electrophysiological techniques are considered key biomarkers of epilepsy. Yet, they lack specificity, mostly because they propagate across brain areas forming networks. ...Finally, resection of spike onset, but not area of spike spre …
Interictal spikes recorded with electrophysiological techniques are considered key biomarkers of epilepsy. Yet, they lack specificity …
113 results