Search

Your search keyword '"Jansen, F E"' showing total 24 results
Start Over Author "Jansen, F E" Search Limiters Available in Library Collection
24 results on '"Jansen, F E"'

1. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G., and van Eeghen, A. M.

Published
2024
Full Text
View/download PDF

2. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp, Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M., CTM & Statistical consultation, Cancer, Neurologen, Brain, TN groep Pasterkamp, Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., and van Eeghen, A. M.

Published
2024

3. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome:protocol for a series of randomized, placebo-controlled N-of-1 trials

Author

Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., van Eeghen, A. M., Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C.B., Geertjens, L., Bruining, H., van Karnebeek, C. D.M., Jansen, F. E., de Wit, M. C.Y., ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M.G., and van Eeghen, A. M.

Abstract

Background: Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder. Quality of life is often impaired due to irritability, aggression and self-injurious behavior, generally refractory to standard therapies. There are indications from previous (case) studies and patient reporting that cannabidiol (CBD) may be an effective treatment for severe behavioral manifestations in RGNDs. However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III), and Fragile X syndrome (FXS), using an innovative trial design. Methods: We aim to conduct placebo-controlled, double-blind, block-randomized, multiple crossover N-of-1 studies with oral CBD (twice daily) in 30 patients (aged ≥ 6 years) with confirmed TSC, MPS III or FXS and severe behavioral manifestations. The treatment is oral CBD up to a maximum of 25 mg/kg/day, twice daily. The primary outcome measure is the subscale irritability of the Aberrant Behavior Checklist. Secondary outcome measures include (personalized) patient-reported outcome measures with regard to behavioral and psychiatric outcomes, disease-specific outcome measures, parental stress, seizure frequency, and adverse effects of CBD. Questionnaires will be completed and study medication will be taken at the participants’ natural setting. Individual treatment effects will be determined based on summary statistics. A mixed model analysis will be applied for analyzing the effectiveness of the intervention per disorder and across dis

Published
2024

4. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Author

Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, Jr, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., and Vitobello, A.

Published
2019
Full Text
View/download PDF

5. Gastrointestinal and eating problems in SCN1A-related seizure disorders

Author

Opleiding Neurologie, Projectafdeling CVZ, Neurologen, Brain, MS Mondziekten/Kaakchirurgie, Afdeling Dietetiek, Projectafdeling KIND, Genetica Klinische Genetica, Minderhoud, C A, Postma, A, Jansen, F E, Verhoeven, J S, Schrijver, J J, Goudswaard, J, Andreae, G, Otte, W M, Braun, K P J, Brilstra, E H, Opleiding Neurologie, Projectafdeling CVZ, Neurologen, Brain, MS Mondziekten/Kaakchirurgie, Afdeling Dietetiek, Projectafdeling KIND, Genetica Klinische Genetica, Minderhoud, C A, Postma, A, Jansen, F E, Verhoeven, J S, Schrijver, J J, Goudswaard, J, Andreae, G, Otte, W M, Braun, K P J, and Brilstra, E H

Published
2023

6. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

Author

Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, Anna C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, Aronica, E, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, Anna C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, and Aronica, E

Abstract

AIMS: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most up-regulated miRs in tubers. Here, we characterized miR-34a expression in tubers with the focus on the early brain development and assessed the regulation of mTORC1 pathway and corticogenesis by miR-34a.METHODS: We analysed the expression of miR-34a in resected cortical tubers (n = 37) compared to autopsy-derived control tissue (n = 27). The effect of miR-34a overexpression on corticogenesis was assessed in mice at E18. The regulation of the mTORC1 pathway and the expression of the bioinformatically predicted target genes were assessed in primary astrocyte cultures from 3 patients with TSC and in SH-SY5Y cells following miR-34a transfection.RESULTS: The peak of miR-34a overexpression in tubers was observed during infancy, concomitant with the presence of pathological markers, particularly in giant cells and dysmorphic neurons. MiR-34a was also strongly expressed in fetal TSC cortex. Overexpression of miR-34a in mouse embryos decreased the percentage of cells migrated to the cortical plate. The transfection of miR-34a mimic in TSC astrocytes negatively regulated mTORC1 and decreased the expression of the target genes RAS related (RRAS) and NOTCH1.CONCLUSIONS: MiR-34a is most highly overexpressed in tubers during fetal and early postnatal brain development. MiR-34a can negatively regulate mTORC1, however, it may also contribute to abnormal corticogenesis in TSC.

Published
2021

7. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

Author

Pathologie, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Unit Opleiding MDL, PMC Medisch specialisten, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, A C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, Aronica, E, Pathologie, Neurologen, Brain, Pathologie Pathologen staf, Cancer, Neurochirurgen, Unit Opleiding MDL, PMC Medisch specialisten, Korotkov, A, Sim, N S, Luinenburg, M J, Anink, J J, van Scheppingen, J, Zimmer, T S, Bongaarts, A, Broekaart, D W M, Mijnsbergen, C, Jansen, F E, Van Hecke, W, Spliet, W G M, van Rijen, P C, Feucht, M, Hainfellner, J A, Krsek, P, Zamecnik, J, Crino, P B, Kotulska, K, Lagae, L, Jansen, A C, Kwiatkowski, D J, Jozwiak, S, Curatolo, P, Mühlebner, A, Lee, J H, Mills, J D, van Vliet, E A, and Aronica, E

Published
2021

11. Increased matrix metalloproteinases expression in tuberous sclerosis complex: modulation by microRNA 146a and 147b in vitro

Author

ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, Broekaart, D. W.M., van Scheppingen, J., Anink, J. J., Wierts, L., van het Hof, B., Jansen, F. E., Spliet, W. G., van Rijen, P. C., Kamphuis, W. W., de Vries, H. E., Aronica, E., van Vliet, E. A., ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, Broekaart, D. W.M., van Scheppingen, J., Anink, J. J., Wierts, L., van het Hof, B., Jansen, F. E., Spliet, W. G., van Rijen, P. C., Kamphuis, W. W., de Vries, H. E., Aronica, E., and van Vliet, E. A.

Published
2020

12. Chronic activation of anti-oxidant pathways and iron accumulation in epileptogenic malformations

Author

Pathologie, ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, MMB Medische Staf, Unit Opleiding MDL, Zimmer, T. S., Ciriminna, G., Arena, A., Anink, J. J., Korotkov, A., Jansen, F. E., van Hecke, W., Spliet, W. G., van Rijen, P. C., Baayen, J. C., Idema, S., Rensing, N. R., Wong, M., Mills, J. D., van Vliet, E. A., Aronica, E., Pathologie, ZL Kinder Ner en Nec Medisch, Brain, Pathologie mortuarium en obductie, Pathologie Pathologen staf, Cancer, Zorglijn FNE Medisch, MMB Medische Staf, Unit Opleiding MDL, Zimmer, T. S., Ciriminna, G., Arena, A., Anink, J. J., Korotkov, A., Jansen, F. E., van Hecke, W., Spliet, W. G., van Rijen, P. C., Baayen, J. C., Idema, S., Rensing, N. R., Wong, M., Mills, J. D., van Vliet, E. A., and Aronica, E.

Published
2020

15. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Author

Genetica, Genetica Klinische Genetica, Child Health, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Genoomdiagnostiek, Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A., Genetica, Genetica Klinische Genetica, Child Health, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Genoomdiagnostiek, Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., and Vitobello, A.

Published
2019

16. Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors

Author

Genetica, Genetica Groep Koeleman, Brain, Child Health, Circulatory Health, ZL Kinder Ner en Nec Medisch, Stevelink, R., Koeleman, B. P.C., Sander, J. W., Jansen, F. E., Braun, K. P.J., Genetica, Genetica Groep Koeleman, Brain, Child Health, Circulatory Health, ZL Kinder Ner en Nec Medisch, Stevelink, R., Koeleman, B. P.C., Sander, J. W., Jansen, F. E., and Braun, K. P.J.

Published
2019

18. Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures

Author

van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, Aronica, E, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, and Aronica, E

Published
2016

19. Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures

Author

Pathologie, ZL Kinder Ner en Nec Medisch, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, Aronica, E, Pathologie, ZL Kinder Ner en Nec Medisch, Brain, ZL Algemene Neurologie Medisch, Pathologie Pathologen staf, Cancer, van Scheppingen, J, Iyer, A M, Prabowo, A S, Mühlebner, A, Anink, J J, Scholl, T, Feucht, M, Jansen, F E, Spliet, W G, Krsek, P, Zamecnik, J, Buccoliero, A M, Giordano, F, Genitori, L, Kotulska, K, Jozwiak, S, Jaworski, J, Liszewska, E, van Vliet, E A, and Aronica, E

Published
2016

21. HISTORICAL NOTE: Tuberous sclerosis complex and its founders.

Author

Jansen, F. E., van Nieuwenhuizen, O., and van Huffelen, A. C.

Subjects
CHROMOSOMES, CELL nuclei, DISEASES, TUBEROUS sclerosis, PEDIATRIC neurology, PATHOLOGY
Abstract

The names of D&eacutesir&eacute Magloire Bourneville and John James Pringle are associated with the disease but they were not the first who reported patients with signs later defined as the diagnostic criteria. Reports start in the 19th century and are based on descriptions of clinical and pathological findings. The lesions were renamed adenoma sebaceum by Pringle. He also mentioned the associated mental subnormality. Positional cloning studies led to the identification of tuberous sclerosis complex1 with the locus on chromosome 9.

Published
2004
Full Text
View/download PDF

22. Damaging de novo missense variants in EEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Author

Laurine Perrin, Sha Tang, Brandon S. Guida, Tjitske Kleefstra, Marjolein H. Willemsen, Heather Stickney, Michael C. Kruer, Keri Ramsey, Heather C Mefford, Lynette G. Sadleir, Bobby P. C. Koeleman, Evelyn Sattlegger, Angela E. Lin, Sara A. Lewis, Marcello Scala, Sergio Padilla-Lopez, Luis O. Rohena, Joaquim Sa, Marie Laure Mathieu, Floor E. Jansen, Joy Y. Sebe, David W. Raible, Giorgio Casari, Gemma L. Carvill, Ingrid E. Scheffer, Paul A. Caruso, Robert Huether, Mariasavina Severino, Candace T. Myers, Eva H. Brilstra, Ashwin A. Bhandiwad, Katherine L. Helbig, Somayeh Bakhtiari, Sehribani Ulusoy Oktay, Gaetan Lesca, Vinodh Narayanan, Georgina Hollingsworth, Tyler N. Kruer, Christel Depienne, Valeria Capra, Pasquale Striano, Timothy Feyma, Deepak Gill, Andrea Accogli, Caroline Nava, Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. -L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C., and Kruer, M. C.

Subjects
Adult, Male, de novo, Heterozygote, Adolescent, Encephalopathy, Choreoathetosis, Mutation, Missense, EEF1A2, Haploinsufficiency, Biology, Article, 03 medical and health sciences, Epilepsy, All institutes and research themes of the Radboud University Medical Center, Peptide Elongation Factor 1, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), 030304 developmental biology, Dystonia, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, Genetic Complementation Test, medicine.disease, yeast complementation assay, Protein Structure, Tertiary, dyskinesia, Child, Preschool, epilepsy, Cerebellar atrophy, Epilepsy, Generalized, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis. Our findings allow us to confirm multiple variants as pathogenic and broaden the phenotypic spectrum to include dystonia/choreoathetosis, and in some cases a degenerative course with cerebral and cerebellar atrophy. Pathogenic variants appear to act via a haploinsufficiency mechanism, disrupting both the protein synthesis and integrated stress response functions of EEF1A2. Our studies provide evidence that EEF1A2 is highly intolerant to variation and that de novo pathogenic variants lead to an epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features. Developmental features may be driven by impaired synaptic protein synthesis during early brain development while progressive symptoms may be linked to an impaired ability to handle cytotoxic stressors.

Published
2020

23. Introduction of Ultra-High-Field MR Imaging in Infants: Preparations and Feasibility.

Author

Annink KV, van der Aa NE, Dudink J, Alderliesten T, Groenendaal F, Lequin M, Jansen FE, Rhebergen KS, Luijten P, Hendrikse J, Hoogduin HJM, Huijing ER, Versteeg E, Visser F, Raaijmakers AJE, Wiegers EC, Klomp DWJ, Wijnen JP, and Benders MJNL

Subjects
Feasibility Studies, Female, Humans, Male, Pilot Projects, Prospective Studies, Infant, Infant, Newborn, Magnetic Resonance Imaging instrumentation, Magnetic Resonance Imaging methods
Abstract

Background and Purpose: Cerebral MR imaging in infants is usually performed with a field strength of up to 3T. In adults, a growing number of studies have shown added diagnostic value of 7T MR imaging. 7T MR imaging might be of additional value in infants with unexplained seizures, for example. The aim of this study was to investigate the feasibility of 7T MR imaging in infants. We provide information about the safety preparations and show the first MR images of infants at 7T., Materials and Methods: Specific absorption rate levels during 7T were simulated in Sim4life using infant and adult models. A newly developed acoustic hood was used to guarantee hearing protection. Acoustic noise damping of this hood was measured and compared with the 3T Nordell hood and no hood. In this prospective pilot study, clinically stable infants, between term-equivalent age and the corrected age of 3 months, underwent 7T MR imaging immediately after their standard 3T MR imaging. The 7T scan protocols were developed and optimized while scanning this cohort., Results: Global and peak specific absorption rate levels in the infant model in the centered position and 50-mm feet direction did not exceed the levels in the adult model. Hearing protection was guaranteed with the new hood. Twelve infants were scanned. No MR imaging-related adverse events occurred. It was feasible to obtain good-quality imaging at 7T for MRA, MRV, SWI, single-shot T2WI, and MR spectroscopy. T1WI had lower quality at 7T., Conclusions: 7T MR imaging is feasible in infants, and good-quality scans could be obtained., (© 2020 by American Journal of Neuroradiology.)

Published
2020
Full Text
View/download PDF

24. Epilepsy surgery in tuberous sclerosis: the Dutch experience.

Author

Jansen FE, Van Huffelen AC, Van Rijen PC, Leijten FS, Jennekens-Schinkel A, Gosselaar P, and Van Nieuwenhuizen O

Subjects
Adolescent, Adult, Child, Child, Preschool, Electroencephalography methods, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Magnetoencephalography, Male, Netherlands epidemiology, Neuropsychological Tests, Retrospective Studies, Epilepsy complications, Epilepsy surgery, Neurosurgical Procedures methods, Treatment Outcome, Tuberous Sclerosis complications
Abstract

Introduction: Epilepsy associated with tuberous sclerosis complex (TSC) is drug resistant in more than half of the patients. Epilepsy surgery may be an alternative treatment option, if the epileptogenic tuber can be identified reliably and if seizure reduction is not at the expense of cognitive or other functions. We report the pre-surgical identification of the epileptogenic tuber and post-surgical outcome of patients with TSC in The Netherlands., Methods: Twenty-five patients underwent the pre-surgical evaluation of the Dutch Comprehensive Epilepsy Surgery Programme, including a detailed seizure history, interictal and ictal video EEG registrations, 3D FLAIR MRI scans and neuropsychological testing. Suitability of the candidates was decided in consensus. Seizure outcome, scored with the Engel classification, and cognition were reassessed at fixed post-surgery intervals., Results: Epilepsy surgery was performed in six patients. At follow-up, four patients had Engel classification 1, two had classification 4. Improved development and behaviour was perceived by the parents of two patients. Epilepsy surgery was not performed in 19 patients because seizures were not captured, ictal onset zones could not be localised or were multiple, interictal EEG, video EEG and MEG results were not concordant, or seizure burden had diminished during decision making. A higher cognition index was found in the surgical patients compared to the non-surgical candidates., Conclusions: Epilepsy surgery can be performed safely and successfully in patients in whom semiology, interictal EEG, ictal EEG, MEG and the location of tubers are concordant. In other cases the risk of surgery should be weighed against the chance of seizure relief and in case of children subsequent impact on neurodevelopment.

Published
2007
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results