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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 104"
Page 1
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Fourteen of the diagnoses (4% of the 319 families) explained only part of the clinical features. A total of 95 different genes were implicated. Of 104 families given a diagnosis, 39 (38%) had a mitochondrial diagnosis and 65 (63%) had a non-mitochondrial diagnosis. ...Most …
Fourteen of the diagnoses (4% of the 319 families) explained only part of the clinical features. A total of 95 different genes were implicat …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
OBJECTIVE: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. ...Seizures other than epileptic spasms were observed in 83 children (66.9%). Pre-existing epilepsy syndrome was ident …
OBJECTIVE: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing cou …
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. ...In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data …
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood a …
Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.
Hu C, Liu D, Luo T, Wang Y, Liu Z. Hu C, et al. Epileptic Disord. 2022 Apr 1;24(2):343-352. doi: 10.1684/epd.2021.1394. Epileptic Disord. 2022. PMID: 34859793
OBJECTIVE: Developmental and epileptic encephalopathy (DEE) is characterized by refractory seizures, developmental delay or intellectual disability, which may be caused by gene mutation. ...With regards to inheritance pattern, de novo heterozygous muta …
OBJECTIVE: Developmental and epileptic encephalopathy (DEE) is characterized by refractory seizures, developmental …
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Riant F, Burglen L, Corpechot M, Robert J, Durr A, Solé G, Petit F, Freihuber C, De Marco O, Sarret C, Castelnovo G, Devillard F, Afenjar A, Héron B, Lasserve ET. Riant F, et al. Clin Genet. 2023 Sep;104(3):365-370. doi: 10.1111/cge.14358. Epub 2023 May 13. Clin Genet. 2023. PMID: 37177896
Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic manifestations or developmental delay. Variants located on the AG/GT consensus splice sites are usually con …
Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive …
Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.
Hortigüela MM, Martínez-Biarge M, Conejo D, Vega-Del-Val C, Arnaez J; Grupo ARAHIP. Hortigüela MM, et al. An Pediatr (Engl Ed). 2024 Feb;100(2):104-114. doi: 10.1016/j.anpede.2024.01.009. Epub 2024 Feb 7. An Pediatr (Engl Ed). 2024. PMID: 38331678 Free article.
INTRODUCTION: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unknown. Recent European studies highlight a shift of severe pathology towards mild motor disorders and emotional problems. ...Of these 42, 10 ( …
INTRODUCTION: The current neurodevelopmental status of patients with neonatal hypoxic-ischaemic encephalopathy (HIE) in Spain is unkn …
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology remains unknown in a significant proportion of individuals. ...We identified a de novo c.508C>T (p.A …
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, …
First-line medication dosing in pediatric refractory status epilepticus.
Vasquez A, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman K, Clark J, Farias-Moeller R, Gaillard WD, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Kapur K, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Vasquez A, et al. Neurology. 2020 Nov 10;95(19):e2683-e2696. doi: 10.1212/WNL.0000000000010828. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913024 Free PMC article.
Low initial BZD doses occurred in both out-of-hospital (57 of 106; 53.8%) and in-hospital (104 of 172; 60.5%) settings. One hundred three patients (37.1%) received low total BZD dose. ...Factors associated with low total BZD dose included male sex, older age, no prior e …
Low initial BZD doses occurred in both out-of-hospital (57 of 106; 53.8%) and in-hospital (104 of 172; 60.5%) settings. One hundred t …
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL, Sadleir LG, Depienne C, Marini C, Scheffer IE, Møller RS, Trivisano M, Specchio N, Pham D, Kumar R, Roberts R, Gecz J. Kolc KL, et al. Transl Psychiatry. 2020 May 4;10(1):127. doi: 10.1038/s41398-020-0803-0. Transl Psychiatry. 2020. PMID: 32366910 Free PMC article.
Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is an X-chromosome disorder that affects heterozygous females and mosaic males, however hemizygous ("transmitting") males are spared. ...Seizures …
Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is an …
CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY.
Kvernadze A, Tatishvili N, Kipiani T, Lomidze G. Kvernadze A, et al. Georgian Med News. 2017 Nov;(272):104-109. Georgian Med News. 2017. PMID: 29227268
All patients were examined neurologically, investigated with prolonged sleep and awake video - EEG, brain MRI, developmental screening tests (Ages & Stages Questionnaires, Third Edition, ASQ-3) at the time of admission. ...There was no relationship between de …
All patients were examined neurologically, investigated with prolonged sleep and awake video - EEG, brain MRI, developmental s …
25 results