22 results on '"Hagebeuk E"'
Search Results
2. Failure to thrive: denk ook aan een hersentumor
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Hagebeuk, E. E. O., de Kraker, J., and Poll-The, B. T.
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- 2003
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3. Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation
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Zwaveling-Soonawala, N., Hagebeuk, E. E., Slingerland, A. S., Ris-Stalpers, C., Vulsma, T., and van Trotsenburg, A. S.
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- 2011
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4. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)
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Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., and Baulac, S.
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- 2019
5. PP4.6 – 1784 S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation
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Hagebeuk, E, primary, Duran, M, additional, Abeling, NG, additional, Vyth, A, additional, and Poll-The, BT, additional
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- 2013
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6. Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation
- Author
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Zwaveling-Soonawala, N., primary, Hagebeuk, E. E., additional, Slingerland, A. S., additional, Ris-Stalpers, C., additional, Vulsma, T., additional, and van Trotsenburg, A. S., additional
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- 2010
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7. NNO03 Vein of Galen malformation with neonatal presentation: incidence and outcome in relation to MRI appearance in the Netherlands and Flanders (1990-2006)
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Vermeulen, J.R., primary, van den Berg, D., additional, Hagebeuk, E., additional, Laroche, S., additional, Zecic, A., additional, van Wezel-Meijler, G., additional, Swarte, R., additional, Naulaers, G., additional, van den Berg, R., additional, and de Vries, L.S., additional
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- 2007
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8. Circadian Rest-Activity Rhythm Disturbances in Alzheimer's Disease
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Someren, E. J. W. Van, Hagebeuk, E. E. O., Lijzenga, C., Scheltens, P., Rooij, S. E. J. A. De, Jonker, C., Pot, A.-M., Mirmiran, M., and Swaab, D. F.
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- 1996
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9. The landscape of epilepsy-related GATOR1 variants
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Johannes R. Lemke, Pia Zacher, Thomas Dorn, Laura Hernandez-Hernandez, Natasha E. Schoeler, Stéphanie Baulac, Sara Baldassari, Anne de Saint Martin, Eleni Panagiotakaki, Anne Fabienne Lepine, Markus Wolff, Arnaud Biraben, Renske Oegema, Edouard Hirsch, Anna Jansen, Charles Deckers, Nienke E. Verbeek, Fabienne Picard, Georg Dorfmüller, Sarah Ferrand-Sorbets, Barbora Benova, Francesca Bisulli, Inga Talvik, Kristin Lindstrom, Tilman Polster, Douglas R. Nordli, Tommaso Pippucci, Eva H. Brilstra, Shifteh Sattar, Erik H. Niks, Marie Line Jacquemont, Kees P.J. Braun, Karen Müller-Schlüter, Sanjay M. Sisodiya, Sarah Weckhuysen, Lysa Boissé Lomax, Sophie Julia, Brigitte Ricard-Mousnier, Mathilde Chipaux, Laura Licchetta, Gaetan Lesca, Bianca Berghuis, S. Krithika, Jamel Chelly, Renzo Guerrini, Hélène Catenoix, Annapurna Poduri, Melanie Jennesson, Pasquale Striano, Rikke S. Møller, Antonio Gambardella, Guillaume Achaz, Peter Uldall, Fabrice Bartolomei, Giuseppe d'Orsi, Laurence Faivre, Floor E. Jansen, An Sofie Schoonjans, Kevin Rostasy, Thomas Becher, Pavel Krsek, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Cécile Marchal, Meral Balci, Boudewijn Gunning, Ilona Krey, Julitta de Bellescize, Veronique Darmency, Christopher J. Yuskaitis, Daniëlle de Jong, Giovanni Crichiutti, Paolo Tinuper, Katrien Stouffs, Valentin Sander, Anne-Sophie Lebre, Thomas Cloppenborg, Valerio Conti, Gabrielle Rudolf, Courtney Kiss, Eveline Hagebeuk, Caroline Nava, Eric LeGuern, Ilse Wegner, Christian Brandt, Martin Zenker, Simona Balestrini, Picard, Fabienne, Baldassari S., Picard F., Verbeek N.E., van Kempen M., Brilstra E.H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F.E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M.-L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A.-S., Jennesson M., Sattar S., Marchal C., Nordli D.R., Lindstrom K., Striano P., Lomax L.B., Kiss C., Bartolomei F., Lepine A.F., Schoonjans A.-S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C.J., Weckhuysen S., Poduri A., Lemke J.R., Moller R.S., Baulac S., Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Genetics [Utrecht, the Netherlands], University Medical Center [Utrecht], Service de Génétique [HCL Groupement Hospitalier Est], Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital A. Meyer, Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical and Experimental Epilepsy, University College of London [London] (UCL), Academic Center for Epileptology Kempenhaeghe & Maastricht UMC+ [Heeze], Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Université de Bourgogne (UB), Service de Neurophysiologie Clinique (CHU Dijon), CHU Pontchaillou [Rennes], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Epilepsie, sommeil et explorations fonctionnelles neuropédiatriques, Hospices Civils de Lyon (HCL)-Hôpital Femme Mère Enfant, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Université Bourgogne Franche-Comté [COMUE] (UBFC), Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique [HCL, Lyon], Hospices Civils de Lyon (HCL), Institute of Human Genetics, University Hospital Magdeburg, Institut de Systématique, Evolution, Biodiversité (ISYEB ), Muséum national d'Histoire naturelle (MNHN)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Groupement hospitalier Lyon-Est, Centre de recherche en neurosciences de Lyon (CRNL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse]
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Male ,0301 basic medicine ,Proband ,DEPDC5 ,SUDEP ,030105 genetics & heredity ,Bioinformatics ,Loss of Function Mutation/genetics ,Epilepsy ,INDEL Mutation ,Loss of Function Mutation ,mTORC1 pathway ,Genetics(clinical) ,Child ,Genetics (clinical) ,Multiprotein Complexes/genetics ,Brugada Syndrome ,DNA Copy Number Variation ,Brugada syndrome ,INDEL Mutation/genetics ,GTPase-Activating Proteins ,NPRL3 ,Seizure ,Phenotype ,Pedigree ,3. Good health ,Brugada Syndrome/genetics ,Child, Preschool ,Female ,Human ,Signal Transduction ,DNA Copy Number Variations ,Adolescent ,Seizures/complications ,Mechanistic Target of Rapamycin Complex 1/genetics ,DNA Copy Number Variations/genetics ,Mechanistic Target of Rapamycin Complex 1 ,Tumor Suppressor Proteins/genetics ,Article ,Focal cortical dysplasia ,03 medical and health sciences ,Seizures ,GTPase-Activating Proteins/genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Genetic focal epilepsy ,Epilepsy/complications ,Repressor Proteins/genetics ,business.industry ,GTPase-Activating Protein ,Tumor Suppressor Proteins ,Infant, Newborn ,Correction ,Infant ,Repressor Protein ,Cortical dysplasia ,medicine.disease ,ddc:616.8 ,Repressor Proteins ,030104 developmental biology ,Frontal lobe seizures ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Multiprotein Complexes ,Multiprotein Complexe ,Signal Transduction/genetics ,Human medicine ,business - Abstract
Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.\ud \ud Results:\ud \ud The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign.\ud \ud Conclusion:\ud \ud Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.
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- 2018
10. Working memory in pediatric frontal lobe epilepsy.
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van den Berg L, de Weerd A, Reuvekamp M, Hagebeuk E, and van der Meere J
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- Child, Executive Function, Frontal Lobe, Humans, Memory Disorders, Memory, Short-Term, Neuropsychological Tests, Epilepsy, Frontal Lobe complications
- Abstract
Thirty-two children with frontal lobe epilepsy (FLE) were assessed using different working memory measures. In addition, parents and teachers completed the working memory scale of the Behavioral Rating Inventory of Executive Functioning (BRIEF) to assess the children's "daily life behavior." Results suggested minimal working memory deficits as assessed with performance-based measures. However, the BRIEF showed more working memory deficits suggesting that, on a daily life level, working memory problems seem to be associated with FLE. We discuss why the results of the performance-based measures are not consistent with results of the BRIEF.HighlightsParents as well as teachers report working memory dysfunction in daily life to the same extent.Performance based measures show minimal deficits of working memory.Correlation between working memory tasks and proxy measures are low.
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- 2021
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11. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
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Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, and Zarate YA
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- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Electroencephalography, Female, Humans, Infant, Male, Retrospective Studies, Sleep Stages physiology, Syndrome, Young Adult, Epilepsy diagnosis, Epilepsy etiology, Epilepsy genetics, Epilepsy physiopathology, Genetic Diseases, Inborn complications, Genetic Diseases, Inborn diagnosis, Genetic Diseases, Inborn genetics, Genetic Diseases, Inborn physiopathology, Matrix Attachment Region Binding Proteins genetics, Nervous System Malformations diagnosis, Nervous System Malformations etiology, Nervous System Malformations genetics, Nervous System Malformations physiopathology, Sleep Wake Disorders diagnosis, Sleep Wake Disorders etiology, Sleep Wake Disorders genetics, Sleep Wake Disorders physiopathology, Transcription Factors genetics
- Abstract
Background: Seizures are an under-reported feature of the SATB2-associated syndrome phenotype. We describe the electroencephalographic findings and seizure semiology and treatment in a population of individuals with SATB2-associated syndrome., Methods: We performed a retrospective review of 101 individuals with SATB2-associated syndrome who were reported to have had a previous electroencephalographic study to identify those who had at least one reported abnormal result. For completeness, a supplemental survey was distributed to the caregivers and input from the treating neurologist was obtained whenever possible., Results: Forty-one subjects were identified as having at least one prior abnormal electroencephalography. Thirty-eight individuals (93%) had epileptiform discharges, 28 (74%) with central localization. Sleep stages were included as part of the electroencephalographies performed in 31 individuals (76%), and epileptiform activity was recorded during sleep in all instances (100%). Definite clinical seizures were diagnosed in 17 individuals (42%) with a mean age of onset of 3.2 years (four months to six years), and focal seizures were the most common type of seizure observed (42%). Six subjects with definite clinical seizures needed polytherapy (35%). Delayed myelination and/or abnormal white matter hyperintensities were seen on neuroimaging in 19 individuals (61%)., Conclusions: Epileptiform abnormalities are commonly seen in individuals with SATB2-associated syndrome. A baseline electroencephalography that preferably includes sleep stages is recommended during the initial evaluation of all individuals with SATB2-associated syndrome, regardless of clinical suspicion of epilepsy., (Copyright © 2020 Elsevier Inc. All rights reserved.)
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- 2020
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12. Correction: The landscape of epilepsy-related GATOR1 variants.
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Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, and Baulac S
- Abstract
The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.
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- 2019
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13. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
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Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, and Depienne C
- Abstract
This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
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- 2019
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14. Correction to: The landscape of epilepsy-related GATOR1 variants.
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Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, and Baulac S
- Abstract
The original version of this Article contained an error in the author list where the corresponding author Stéphanie Baulac was repeated twice. This has now been corrected in the HTML, the PDF was correct at the time of publication.
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- 2019
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15. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
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Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, and Depienne C
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- Brain growth & development, Brain metabolism, Brain Diseases epidemiology, Brain Diseases physiopathology, Female, Humans, Infant, Infant, Newborn, Intellectual Disability epidemiology, Intellectual Disability physiopathology, Male, Mutation, Pedigree, Phenotype, Protein Isoforms genetics, Seizures epidemiology, Seizures physiopathology, Sex Characteristics, Brain Diseases genetics, Guanine Nucleotide Exchange Factors genetics, Intellectual Disability genetics, Seizures genetics
- Abstract
Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences., Methods: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms., Results: IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments., Conclusion: This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development.
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- 2019
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16. The landscape of epilepsy-related GATOR1 variants.
- Author
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Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, and Baulac S
- Subjects
- Adolescent, Brugada Syndrome genetics, Brugada Syndrome mortality, Brugada Syndrome physiopathology, Child, Child, Preschool, DNA Copy Number Variations genetics, Epilepsy complications, Epilepsy epidemiology, Epilepsy physiopathology, Female, Genetic Predisposition to Disease, Humans, INDEL Mutation genetics, Infant, Infant, Newborn, Loss of Function Mutation genetics, Male, Mechanistic Target of Rapamycin Complex 1 genetics, Multiprotein Complexes genetics, Pedigree, Seizures complications, Seizures epidemiology, Seizures genetics, Seizures physiopathology, Signal Transduction genetics, Epilepsy genetics, GTPase-Activating Proteins genetics, Repressor Proteins genetics, Tumor Suppressor Proteins genetics
- Abstract
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants., Results: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign., Conclusion: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.
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- 2019
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17. Executive and behavioral functioning in pediatric frontal lobe epilepsy.
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van den Berg L, de Weerd A, Reuvekamp M, Hagebeuk E, and van der Meere J
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- Child, Child Behavior Disorders diagnosis, Epilepsy, Frontal Lobe diagnosis, Female, Humans, Male, Mental Disorders diagnosis, Mental Disorders epidemiology, Mental Disorders psychology, Child Behavior Disorders epidemiology, Child Behavior Disorders psychology, Epilepsy, Frontal Lobe epidemiology, Epilepsy, Frontal Lobe psychology, Executive Function physiology
- Abstract
Objective: Epilepsy, as a chronic and neurological disease, is generally associated with an increased risk for social and emotional behavior problems in children. These findings are mostly derived from studies on children with different epilepsy types. However, there is limited information about the associations between frontal lobe epilepsy (FLE) and cognitive and behavioral problems. The aim of this study was to examine relationships between FLE and executive and behavioral functioning reported by parents and teachers., Material and Methods: Teachers and parents of 32 children (18 boys, 14 girls, mean age 9; 2 years ±1;6) with a confirmed diagnosis of FLE completed the Behavioral Rating Inventory of Executive Function (BRIEF), the Child Behavior Checklist (CBCL), and Teacher Report Form (TRF)., Results: About 25 to 35% of the parents and teachers rated children in the abnormal range of the main scales of the BRIEF, CBCL, and TRF. Teachers tend to report more metacognition problems, whereas parents tend to report more behavior regulation problems. Children with left-sided FLE showed more problems than children with bilateral or right-sided FLE. The whole range of executive dysfunctioning is linked to behavioral dysfunctioning in FLE, but ratings vary across settings and informants. The epilepsy variables age of onset, lateralization, drug load, and duration of epilepsy had only a small and scattered contribution., Conclusion: Ratings on the BRIEF, CBCL, and TRF are moderately to highly correlated, suggesting a (strong) link between executive and behavioral functioning. Subtle differences between parents and teachers ratings suggest different executive function demands in various settings., (Copyright © 2018 Elsevier Inc. All rights reserved.)
- Published
- 2018
- Full Text
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18. Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
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Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, and Brilstra EH
- Subjects
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Epilepsies, Myoclonic complications, Epilepsies, Myoclonic genetics, Female, Humans, Incidence, Infant, Male, NAV1.1 Voltage-Gated Sodium Channel genetics, Retrospective Studies, Risk, Young Adult, Diphtheria-Tetanus-Pertussis Vaccine adverse effects, Diphtheria-Tetanus-acellular Pertussis Vaccines adverse effects, Disease Progression, Epilepsies, Myoclonic physiopathology, Measles-Mumps-Rubella Vaccine adverse effects, Seizures etiology, Vaccination adverse effects
- Abstract
Objective: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS)., Methods: We retrospectively analyzed data from hospital medical files, child health clinics, and the vaccination register for children with DS and pathogenic SCN1A mutations. Seizures within 24 hours after infant whole-cell, acellular, or nonpertussis combination vaccination or within 5 to 12 days after MMR vaccination were defined as "vaccination-associated." Risks of vaccination-associated seizures for the different vaccines were analyzed in univariable and in multivariable logistic regression for pertussis combination vaccines and by a self-controlled case series analysis using parental seizure registries for MMR vaccines. Disease courses of children with and without vaccination-associated seizure onset were compared., Results: Children who had DS (n = 77) with and without vaccination-associated seizure onset (21% and 79%, respectively) differed in age at first seizure (median 3.7 vs 6.1 months, p < 0.001) but not in age at first nonvaccination-associated seizure, age at first report of developmental delay, or cognitive outcome. The risk of subsequent vaccination-associated seizures was significantly lower for acellular pertussis (9%; odds ratio 0.18, 95% confidence interval [CI] 0.05-0.71) and nonpertussis (8%; odds ratio 0.11, 95% CI 0.02-0.59) than whole-cell pertussis (37%; reference) vaccines. Self-controlled case series analysis showed an increased incidence rate ratio of seizures of 2.3 (95% CI 1.5-3.4) within the risk period of 5 to 12 days following MMR vaccination., Conclusions: Our results suggest that vaccination-associated earlier seizure onset does not alter disease course in DS, while the risk of subsequent vaccination-associated seizures is probably vaccine-specific., (© 2015 American Academy of Neurology.)
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- 2015
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19. A case of neonatal dural sinus malformation: clinical symptoms, imaging and neuropathological investigations.
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de Haan TR, Padberg RD, Hagebeuk EE, Aronica E, van Rijn RR, Majoie CB, and Kok JH
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- Humans, Infant, Newborn, Magnetic Resonance Angiography, Magnetic Resonance Imaging, Radiography, Central Nervous System Vascular Malformations diagnostic imaging, Central Nervous System Vascular Malformations pathology, Central Nervous System Vascular Malformations physiopathology, Cranial Sinuses pathology
- Abstract
We report a case of neonatal dural sinus malformation already visible on antenatal ultrasound. This is a rare disease entity in infants and children. Clinical diagnosis was made by demonstrating a cranial murmur on auscultation; macrocrania and signs of progressive cardiac failure. Imaging studies as cerebral ultrasound, postnatal MRI scan and MR angiography demonstrated a large dural sinus malformation originating from the sagittal sinus with extensive arteriovenous fistulae. Due to the extent of the lesion, the existing ischemic brain damage and involvement of the torcular, no therapeutic options were available and the child died of irreversible cardiac failure. The diagnosis was confirmed with autopsy. We discuss the clinical presentation, imaging and neuropathological results and relate our findings to embryological data and the existing literature.
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- 2008
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20. Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
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Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, and Freeze HH
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- Biological Transport, Brefeldin A pharmacology, Consanguinity, Endoplasmic Reticulum metabolism, Female, Fibroblasts drug effects, Fibroblasts metabolism, Humans, Kinetics, Morocco ethnology, N-Acetylneuraminic Acid metabolism, Polysaccharides metabolism, Adaptor Proteins, Vesicular Transport deficiency, Adaptor Proteins, Vesicular Transport genetics
- Abstract
Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.
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- 2007
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21. Clinical and electrophysiological follow-up after local steroid injection in the carpal tunnel syndrome.
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Hagebeuk EE and de Weerd AW
- Subjects
- Action Potentials drug effects, Adult, Electromyography, Female, Humans, Injections, Intra-Articular, Male, Middle Aged, Neural Conduction drug effects, Treatment Outcome, Anti-Inflammatory Agents administration & dosage, Carpal Tunnel Syndrome drug therapy, Carpal Tunnel Syndrome physiopathology, Methylprednisolone administration & dosage
- Abstract
Objective: Local steroid injections are used for treatment for the carpal tunnel syndrome (CTS). Study of changes in neurophysiological parameters after such treatment for idiopathic CTS might be a supportive argument for the effectiveness of steroid treatment., Methods: Twenty-one patients with CTS were included and evaluated before and at 1, 3 and 6 months after treatment. At the inclusion date patients received a single 1 ml local steroid injection. Various electrophysiological tests were used. For clinical evaluation, we used the Boston Carpal Tunnel Questionnaire (BCTQ) and the General Outcome Score., Results: The mean nerve conduction parameters had significantly improved at 1 month, except the SNAP4 and CMAP. This improvement was still present at 3 months. At 6 months follow-up, the improvement in the SDL4, SNAP4, M-U, DML and CMAP remained significant. In 6 patients (29%), the nerve conduction parameters normalized and remained so until the end of the study. The BCTQ and the General Outcome Score significantly improved as well. However, there was no correlation between the electrophysiological data, the BCTQ and the General Outcome Score., Conclusions: The improvements of nerve conduction parameters independently support the ideas on effectiveness of steroid injection therapy in CTS.
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- 2004
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22. Circadian rest-activity rhythm disturbances in Alzheimer's disease.
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van Someren EJ, Hagebeuk EE, Lijzenga C, Scheltens P, de Rooij SE, Jonker C, Pot AM, Mirmiran M, and Swaab DF
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- Aged, Analysis of Variance, Humans, Alzheimer Disease physiopathology, Circadian Rhythm physiology
- Abstract
Previous studies showed circadian rhythm disturbances in patients with Alzheimer's disease. Rest-activity rhythm disturbances manifest themselves through a fragmentation of the rhythm, a weak coupling with Zeitgebers, and high levels of activity during the night. The aim of the present study was to investigate which factors contribute to the presence of these disturbances. Therefore, several rest-activity rhythm, constitutional, and environmental variables were assessed in a heterogeneous group of 34 patients with Alzheimer's disease, including presenile and senile patients living at home or in a nursing home, as well as in 11 healthy controls. Circadian rest-activity rhythm disturbances were most prominent in institutionalized patients. Regression analyses showed the involvement of the following variables. First stability of the rest-activity rhythm is associated with high levels of daytime activity and high levels of environmental light resulting from seasonal effects as well as from indoor illumination. Presenile onset contributed to instability of the rhythm. Second, fragmentation of periods of activity and rest is associated with low levels of daytime activity, and is most prominent in moderately severe dementia. Third, night-time activity level is higher during the times of the year when the days are getting shorter and lower when the days are growing longer. These findings indicate that rest-activity rhythm disturbances may improve by increasing environmental light and daytime activity, an assumption for which empirical evidence has recently been published.
- Published
- 1996
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