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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 29"
Page 1
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. ...Eighty-five percent of patients developed epilepsies with variable syndromes and prognosis. Truncating variants in the C-t …
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental dis …
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 …
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 …
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 …
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 …
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
OBJECTIVE: Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. ...METHODS: We retrospectively reconstructed seizure and medication histories in week …
OBJECTIVE: Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variet …
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship; Palmer EE, Howell KB. Scheffer IE, et al. Dev Med Child Neurol. 2023 Jan;65(1):50-57. doi: 10.1111/dmcn.15308. Epub 2022 Jun 14. Dev Med Child Neurol. 2023. PMID: 35701389 Free PMC article.
AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). METHOD: Over 2 years, patients with DEEs were recruited for singleton exome sequencing. ...WHAT THIS PAPER ADDS: The cause was ident …
AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies …
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Levy RJ, et al. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11. J Inherit Metab Dis. 2022. PMID: 35243670
The most common seizure types were myoclonic and atonic. Epilepsy course was variable, but 35.2% (6/17) of participants with epilepsy achieved seizure freedom. ...Electroencephalogram (EEGs) were abnormal in 80% (12/15) of participants with or without epil …
The most common seizure types were myoclonic and atonic. Epilepsy course was variable, but 35.2% (6/17) of participants with …
Cerebral Palsy in Extremely Preterm Infants.
Hafström M, Källén K, Serenius F, Maršál K, Rehn E, Drake H, Ådén U, Farooqi A, Thorngren-Jerneck K, Strömberg B. Hafström M, et al. Pediatrics. 2018 Jan;141(1):e20171433. doi: 10.1542/peds.2017-1433. Epub 2017 Dec 8. Pediatrics. 2018. PMID: 29222398
The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including the type and severity of CP and other comorbidities (ie, developmental delay and/or cognitive impairment, neurobehavioral morbidity, …
The present study describes lifetime prevalence of CP in a population-based prospective cohort of children born extremely preterm, including …
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.
Stoian A, Bajko Z, Bălașa R, Andone S, Stoian M, Ormenișan I, Muntean C, Bănescu C. Stoian A, et al. Biomolecules. 2024 Feb 23;14(3):270. doi: 10.3390/biom14030270. Biomolecules. 2024. PMID: 38540691 Free PMC article. Review.
BACKGROUND: Developmental and epileptic encephalopathies (DEE) encompass a group of rare diseases with hereditary and genetic causes as well as acquired causes such as brain injuries or metabolic abnormalities. ...Accurate diagnosis is required …
BACKGROUND: Developmental and epileptic encephalopathies (DEE) encompass a group of rare diseases with hereditar …
149 results