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165 results

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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 31"
Page 1
Prenatal Exposure to Antiseizure Medication and Incidence of Childhood- and Adolescence-Onset Psychiatric Disorders.
Dreier JW, Bjørk MH, Alvestad S, Gissler M, Igland J, Leinonen MK, Sun Y, Zoega H, Cohen JM, Furu K, Tomson T, Christensen J. Dreier JW, et al. JAMA Neurol. 2023 Jun 1;80(6):568-577. doi: 10.1001/jamaneurol.2023.0674. JAMA Neurol. 2023. PMID: 37067807 Free PMC article.
Of the 4 546 605 children, 54 953 with chromosomal disorders or uncertain birth characteristics were excluded, and 38 661 children of mothers with epilepsy were identified. Data analysis was performed from August 2021 to January 2023. ...This study provides reassuring evid …
Of the 4 546 605 children, 54 953 with chromosomal disorders or uncertain birth characteristics were excluded, and 38 661 children of mother …
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 …
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
BACKGROUND: Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy nu …
BACKGROUND: Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs …
Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
Nickels K, Kossoff EH, Eschbach K, Joshi C. Nickels K, et al. Epilepsia. 2021 Jan;62(1):120-127. doi: 10.1111/epi.16752. Epub 2020 Nov 14. Epilepsia. 2021. PMID: 33190223
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...RESULTS: A total of 166 children were identified. Global developmental delay (>1 domain) was present in 2% of children at onset and 49% …
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...RESULT …
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.
Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. ...
Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic …
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 …
Adult phenotype of KCNQ2 encephalopathy.
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S. Boets S, et al. J Med Genet. 2022 Jun;59(6):528-535. doi: 10.1136/jmedgenet-2020-107449. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811133
BACKGROUND: Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy. METHODS: We recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging an …
BACKGROUND: Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy. METHODS: We r …
Perisylvian epileptic network revisited.
Halász P, Kelemen A, Rosdy B, Rásonyi G, Clemens B, Szűcs A. Halász P, et al. Seizure. 2019 Feb;65:31-41. doi: 10.1016/j.seizure.2018.12.003. Epub 2018 Dec 21. Seizure. 2019. PMID: 30605881 Free article. Review.
We overview here the new data about the epileptic spectrum disorders within the frame of perisylvian epileptic network since our first trial to synthetize knowledge about this system epilepsy (Halasz et al., 2005). ...The transformation of a part of the child …
We overview here the new data about the epileptic spectrum disorders within the frame of perisylvian epileptic network since o …
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Pavone P, et al. Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. Medicine (Baltimore). 2022. PMID: 35945798 Free PMC article. Review.
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC …
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysm …
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patie …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PI …
165 results