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Year Number of Results
1995 1
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2017 2
2021 1
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2023 4
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Page 1
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 …
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Leal-Pardinas F, Truty R, McKnight DA, Johnson B, Morales A, Bristow SL, Yar Pang T, Cohen-Pfeffer J, Izzo E, Sankar R, Koh S, Wirrell EC, Millichap JJ, Aradhya S. Leal-Pardinas F, et al. Epilepsia. 2022 Jul;63(7):e68-e73. doi: 10.1111/epi.17269. Epub 2022 May 10. Epilepsia. 2022. PMID: 35474188 Free PMC article.
This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure() , a sponsored genetic test …
This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosi …
Scoping review and expert-based consensus recommendations for assessment and management of psychogenic non-epileptic (functional) seizures (PNES) in children: A report from the Pediatric Psychiatric Issues Task Force of the International League Against Epilepsy.
Reilly C, Jette N, Johnson EC, Kariuki SM, Meredith F, Wirrell E, Mula M, Smith ML, Walsh S, Fong CY, Wilmshurst JM, Kerr M, Valente K, Auvin S. Reilly C, et al. Epilepsia. 2023 Dec;64(12):3160-3195. doi: 10.1111/epi.17768. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37804168 Review.
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was to develop consensus-based recommendations to fill this gap. ...The primary means of PNES identification was video electroencephalography ( …
Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was …
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Eriksson MH, Whitaker KJ, Booth J, Piper RJ, Chari A, Martin Sanfilippo P, Caballero AP, Menzies L, McTague A, Adler S, Wagstyl K, Tisdall MM, Cross JH, Baldeweg T. Eriksson MH, et al. Epilepsia. 2023 Sep;64(9):2260-2273. doi: 10.1111/epi.17670. Epub 2023 Jul 21. Epilepsia. 2023. PMID: 37264783 Free PMC article.

There was an annual increase in the number of referrals (7%, 95% confidence interval [CI] = 5.3-8.6; p < .001) and surgeries (4% [95% CI = 2.9-5.6], p < .001) over time. Duration of epilepsy and total number of different ASMs trialed from epilepsy onset to sur

…

There was an annual increase in the number of referrals (7%, 95% confidence interval [CI] = 5.3-8.6; p < .001) and surgeries (4% [95% CI

…
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 …
A descriptive study of patients diagnosed with psychogenic nonepileptic seizures at a tertiary epilepsy center in the Czech Republic: One-year follow-up.
Krámská L, Myers L, Hrešková L, Jerie M, Vojtěch Z. Krámská L, et al. Epilepsy Behav. 2021 May;118:107922. doi: 10.1016/j.yebeh.2021.107922. Epub 2021 Mar 19. Epilepsy Behav. 2021. PMID: 33752043 Free article.
PURPOSE: To delineate sociodemographic data of a large sample of Czech Republic patients diagnosed with psychogenic non-epileptic seizures (PNES) at the time of diagnosis and at a follow-up visit one year after discharge. ...The majority of patients were single (46.13%) or …
PURPOSE: To delineate sociodemographic data of a large sample of Czech Republic patients diagnosed with psychogenic non-epileptic sei …
Treatment for epilepsy in pregnancy: neurodevelopmental outcomes in the child.
Bromley R, Weston J, Adab N, Greenhalgh J, Sanniti A, McKay AJ, Tudur Smith C, Marson AG. Bromley R, et al. Cochrane Database Syst Rev. 2014 Oct 30;2014(10):CD010236. doi: 10.1002/14651858.CD010236.pub2. Cochrane Database Syst Rev. 2014. PMID: 25354543 Free PMC article. Review.
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials were selected for inclusion. Participants were women with epilepsy taking AED treatment; the two control groups were women without e …
SELECTION CRITERIA: Prospective cohort controlled studies, cohort studies set within pregnancy registers and randomised controlled trials we …
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
Three variants that led to premature stops were located in the C-terminal and 3 in the ion channel domain. Twenty-one of 25 patients (84%) had seizures, with 9 patients (36%) starting with epileptic spasms between 3 and 18 months of age. All patients had developm …
Three variants that led to premature stops were located in the C-terminal and 3 in the ion channel domain. Twenty-one of 25 patients (84 …
Epilepsy treatment in Rett syndrome.
Krajnc N, Župančič N, Oražem J. Krajnc N, et al. J Child Neurol. 2011 Nov;26(11):1429-33. doi: 10.1177/0883073811408422. Epub 2011 Jun 2. J Child Neurol. 2011. PMID: 21636780
Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syn …
Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early s …
Sibling response to initial antiepileptic medication predicts treatment success.
Ueda K, Serajee F, Rajlich J, Taraman S, Steckling L, Huq AM. Ueda K, et al. Epilepsy Res. 2017 Oct;136:84-87. doi: 10.1016/j.eplepsyres.2017.07.019. Epub 2017 Aug 1. Epilepsy Res. 2017. PMID: 28800427
OBJECTIVE: A recent study focusing on a response to antiepileptic drugs (AED) among siblings for epilepsy showed a similar response among epileptic siblings to specific AEDs or AED combinations. ...METHODS: Presumed siblings were identified from a single-center data …
OBJECTIVE: A recent study focusing on a response to antiepileptic drugs (AED) among siblings for epilepsy showed a similar response a …
11 results