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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 84"
Page 1
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F. D'Antonio F, et al. Pediatrics. 2016 Sep;138(3):e20160445. doi: 10.1542/peds.2016-0445. Pediatrics. 2016. PMID: 27581855 Review.
Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) of cases. ...Fine moto …
Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.8 …
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE. Donnan AM, et al. Neurology. 2023 Apr 18;100(16):e1712-e1722. doi: 10.1212/WNL.0000000000207080. Epub 2023 Feb 7. Neurology. 2023. PMID: 36750385 Free PMC article.
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic spectrum. Currently, the rates of convulsive status epilepticus (CSE), nonconvulsive …
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of se …
Outcome in preterm infants with seizures.
Pisani F, Spagnoli C. Pisani F, et al. Handb Clin Neurol. 2019;162:401-414. doi: 10.1016/B978-0-444-64029-1.00019-9. Handb Clin Neurol. 2019. PMID: 31324322 Review.
Seizures are a strong predictor of unfavorable outcomes, including not only cerebral palsy, epilepsy, and intellectual disability, but also vision, hearing impairment, and microcephaly. The majority of patients with developmental delay are severely affected a …
Seizures are a strong predictor of unfavorable outcomes, including not only cerebral palsy, epilepsy, and intellectual disabil …
A registry for Dravet syndrome: The Italian experience.
Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D; Residras Collaboration Group; Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R. Balestrini S, et al. Epilepsia Open. 2023 Jun;8(2):517-534. doi: 10.1002/epi4.12730. Epub 2023 Mar 30. Epilepsia Open. 2023. PMID: 36938796 Free PMC article.

During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an

…
During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When anal …
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Schoeler NE, Marston L, Lyons L, Halsall S, Jain R, Titre-Johnson S, Balogun M, Heales SJR, Eaton S, Orford M, Neal E, Reilly C, Eltze C, Stephen E, Mallick AA, O'Callaghan F, Agrawal S, Parker A, Kirkpatrick M, Brunklaus A, McLellan A, McCullagh H, Samanta R, Kneen R, Tan HJ, Devlin A, Prasad M, Rattihalli R, Basu H, Desurkar A, Williams R, Fallon P, Nazareth I, Freemantle N, Cross JH; KIWE study group. Schoeler NE, et al. Lancet Neurol. 2023 Dec;22(12):1113-1124. doi: 10.1016/S1474-4422(23)00370-8. Lancet Neurol. 2023. PMID: 37977712 Free article. Clinical Trial.
We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in infants with drug-resistant epilepsy. METHODS: In this phase 4, open-label, multicentre, randomised clinical trial, infants aged 1-24 …
We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in i …
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406
BACKGROUND: Patients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a common phen …
BACKGROUND: Patients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental …
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 …
Brivaracetam (UCB 34714).
von Rosenstiel P. von Rosenstiel P. Neurotherapeutics. 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. Neurotherapeutics. 2007. PMID: 17199019 Free PMC article. Review.
This correlates with a higher potency in suppressing epileptiform responses in vitro and a more potent and complete suppression of different seizure types in animals with an acquired or genetic epilepsy. Brivaracetam has been tested in a comprehensive safety pharmacology, …
This correlates with a higher potency in suppressing epileptiform responses in vitro and a more potent and complete suppression of different …
Ocular abnormalities in children with developmental delay.
Kavitha V, Gangrade AK, Heralgi MM, Haragoppa S. Kavitha V, et al. Indian J Ophthalmol. 2023 Oct;71(10):3328-3334. doi: 10.4103/IJO.IJO_3358_22. Indian J Ophthalmol. 2023. PMID: 37787230 Free PMC article.
METHODS: This was a cross sectional, observational study. We included children between one and 18 years, diagnosed as developmental delay in DD group, and next immediate age- and sex-matched children without developmental delay on the same day or during the s …
METHODS: This was a cross sectional, observational study. We included children between one and 18 years, diagnosed as developmenta …
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Aledo-Serrano Á, et al. Neurotherapeutics. 2023 Sep;20(5):1294-1304. doi: 10.1007/s13311-023-01395-z. Epub 2023 Jun 6. Neurotherapeutics. 2023. PMID: 37278968 Free article.
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transp …
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of th …
65 results