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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 76"
Page 1
SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
Talwar D, Hammer MF. Talwar D, et al. Pediatr Neurol. 2021 Sep;122:76-83. doi: 10.1016/j.pediatrneurol.2021.06.011. Epub 2021 Aug 3. Pediatr Neurol. 2021. PMID: 34353676 Review.
Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and whole-exome sequencing have particularly been useful in understanding the genetic basis of childhood epileptic encephalopathies characterized …
Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and whole-exome seq …
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 …
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.
Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ. Cloppenborg T, et al. Neurology. 2022 Jan 18;98(3):e225-e235. doi: 10.1212/WNL.0000000000013065. Epub 2021 Nov 18. Neurology. 2022. PMID: 34795046
BACKGROUND AND OBJECTIVES: To identify predictors of postoperative intelligence and developmental quotients (IQ/DQ) and develop and validate clinically applicable IQ/DQ prediction models. ...The presented models can improve presurgical counseling of patients …
BACKGROUND AND OBJECTIVES: To identify predictors of postoperative intelligence and developmental quotients (IQ/DQ) and develo …
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 …
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 …
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.
Ahn LY, Coatti GC, Liu J, Gumus E, Schaffer AE, Miranda HC. Ahn LY, et al. J Neurosci Res. 2021 Jan;99(1):110-123. doi: 10.1002/jnr.24747. Epub 2020 Nov 3. J Neurosci Res. 2021. PMID: 33141462 Free PMC article.
We recently reported biallelic pathogenic variants in ACTL6B in patients diagnosed with early infantile epileptic encephalopathy, subtype 76 (EIEE-76), presenting with severe, global developmental delay, epileptic encephalopathy, cerebral atroph …
We recently reported biallelic pathogenic variants in ACTL6B in patients diagnosed with early infantile epileptic encephalopathy …
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N, Menon RN, McTague A, Radhakrishnan A, Sundaram S, Cherian A, Madhavilatha GK, Mannan AU, Nampoothiri S, Thomas SV. Mitta N, et al. Epilepsy Res. 2020 Oct;166:106398. doi: 10.1016/j.eplepsyres.2020.106398. Epub 2020 Jun 18. Epilepsy Res. 2020. PMID: 32593896
INTRODUCTION: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying po …
INTRODUCTION: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental- …
Use of ketogenic dietary therapy for drug-resistant epilepsy in early infancy.
Armeno M, Calligaris S, Gagiulo D, Cresta A, Vaccarezza MM, Diez CG, Alberti MJ, Viollaz R, Vilavedra F, Caraballo RH. Armeno M, et al. Epilepsia Open. 2024 Feb;9(1):138-149. doi: 10.1002/epi4.12836. Epub 2023 Nov 20. Epilepsia Open. 2024. PMID: 37759424 Free PMC article.
OBJECTIVE: There is growing evidence that ketogenic dietary therapy (KDT) can be safely and efficiently used in young children, but little evidence exists on its use in newborns. Developmental and epileptic encephalopathies starting in the neonatal period or …
OBJECTIVE: There is growing evidence that ketogenic dietary therapy (KDT) can be safely and efficiently used in young children, but little e …
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Guerriero RM, et al. Pediatr Neurol. 2017 Nov;76:47-53. doi: 10.1016/j.pediatrneurol.2017.05.024. Epub 2017 Jun 3. Pediatr Neurol. 2017. PMID: 28985901 Free PMC article.
Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. ...A movement disorder, developmental delay, and encep …
Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic …
Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y. Liu X, et al. Epilepsia Open. 2023 Sep;8(3):898-911. doi: 10.1002/epi4.12755. Epub 2023 May 16. Epilepsia Open. 2023. PMID: 37144544 Free PMC article.
OBJECTIVE: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new and rare histopathological entity of cortical developmental malformations. ...Preoperative interictal discharge and surgical strategy may be predic …
OBJECTIVE: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new and rare histopat …
67 results