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2. Optical Fourier surfaces

Author

Lassaline, Nolan, Brechbühler, Raphael, Vonk, Sander J. W., Ridderbeek, Korneel, Spieser, Martin, Bisig, Samuel, and le Feber, Boris

Subjects
Diffraction gratings -- Design and construction -- Properties -- Usage, Fourier transformations -- Usage, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Gratings.sup.1 and holograms.sup.2 use patterned surfaces to tailor optical signals by diffraction. Despite their long history, variants with remarkable functionalities continue to be developed.sup.3,4. Further advances could exploit Fourier optics.sup.5, which specifies the surface pattern that generates a desired diffracted output through its Fourier transform. To shape the optical wavefront, the ideal surface profile should contain a precise sum of sinusoidal waves, each with a well defined amplitude, spatial frequency and phase. However, because fabrication techniques typically yield profiles with at most a few depth levels, complex 'wavy' surfaces cannot be obtained, limiting the straightforward mathematical design and implementation of sophisticated diffractive optics. Here we present a simple yet powerful approach to eliminate this design-fabrication mismatch by demonstrating optical surfaces that contain an arbitrary number of specified sinusoids. We combine thermal scanning-probe lithography.sup.6-8 and templating.sup.9 to create periodic and aperiodic surface patterns with continuous depth control and sub-wavelength spatial resolution. Multicomponent linear gratings allow precise manipulation of electromagnetic signals through Fourier-spectrum engineering.sup.10. Consequently, we overcome a previous limitation in photonics by creating an ultrathin grating that simultaneously couples red, green and blue light at the same angle of incidence. More broadly, we analytically design and accurately replicate intricate two-dimensional moiré patterns.sup.11,12, quasicrystals.sup.13,14 and holograms.sup.15,16, demonstrating a variety of previously unattainable diffractive surfaces. This approach may find application in optical devices (biosensors.sup.17, lasers.sup.18,19, metasurfaces.sup.4 and modulators.sup.20) and emerging areas in photonics (topological structures.sup.21, transformation optics.sup.22 and valleytronics.sup.23). Combining thermal scanning-probe lithography with templating enables the production of high-quality gratings that manipulate light through Fourier-spectrum engineering in ways that are not achievable with conventional gratings., Author(s): Nolan Lassaline [sup.1] , Raphael Brechbühler [sup.1] , Sander J. W. Vonk [sup.1] [sup.2] , Korneel Ridderbeek [sup.1] , Martin Spieser [sup.3] , Samuel Bisig [sup.3] , Boris le [...]

Published
2020
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5. High prevalence of epilepsy in Southern and Northern Rwanda: Myth or reality?

Author

Angwafor, S. A., Watila, M. M., Njamnshi, A. K., and Sander, J. W.

Subjects
HEALTH services accessibility, HEALTH facilities, PEOPLE with epilepsy, SUBSISTENCE farming, VACCINATION coverage, EPILEPSY
Abstract

This article discusses two studies conducted in Southern and Northern Rwanda that report a high prevalence of epilepsy. While the studies provide valuable data on the epilepsy burden in Sub-Saharan Africa, there are methodological issues that may affect the generalizability of the findings. The choice of study areas appears biased, and the selection of villages based on the absence of an epilepsy awareness campaign may introduce bias as well. Additionally, the exceptionally high participation rate in the Southern Rwanda study and the higher prevalence among women raise questions about the study's methodology and potential factors contributing to the high prevalence. The authors emphasize the need for prevalence studies to include large, heterogeneous populations and investigate local risk factors. [Extracted from the article]

Published
2024
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10. Artificial intelligence extension of the OSCAR-IB criteria

Author

Petzold, A., Albrecht, P., Balcer, L., Bekkers, E., Brandt, A. U., Calabresi, P. A., Deborah, O. G., Graves, J. S., Green, A., Keane, P. A., Nij Bijvank, J. A., Sander, J. W., Paul, F., Saidha, S., Villoslada, P., Wagner, S. K., Yeh, E. A., Aktas, O., Antel, J., Asgari, N., Audo, I., Avasarala, J., Avril, D., Bagnato, F. R., Banwell, B., Bar-Or, A., Behbehani, R., Manterola, A. B., Bennett, J., Benson, L., Bernard, J., Bremond-Gignac, D., Britze, J., Burton, J., Calkwood, J., Carroll, W., Chandratheva, A., Cohen, J., Comi, G., Cordano, C., Costa, S., Costello, F., Courtney, A., Cruz-Herranz, A., Cutter, G., Crabb, D., Delott, L., De Seze, J., Diem, R., Dollfuss, H., El Ayoubi, N. K., Fasser, C., Finke, C., Fischer, D., Fitzgerald, K., Fonseca, P., Frederiksen, J. L., Frohman, E., Frohman, T., Fujihara, K., Cuellar, I. G., Galetta, S., Garcia-Martin, E., Giovannoni, G., Glebauskiene, B., Suarez, I. G., Jensen, G. P., Hamann, S., Hartung, H. -P., Havla, J., Hemmer, B., Huang, S. -C., Imitola, J., Jasinskas, V., Jiang, H., Kafieh, R., Kappos, L., Kardon, R., Keegan, D., Kildebeck, E., Kim, U. S., Klistorner, S., Knier, B., Kolbe, S., Korn, T., Krupp, L., Lagreze, W., Leocani, L., Levin, N., Liskova, P., Preiningerova, J. L., Lorenz, B., May, E., Miller, D., Mikolajczak, J., Said, S. M., Montalban, X., Morrow, M., Mowry, E., Murta, J., Navas, C., Nolan, R., Nowomiejska, K., Oertel, F. C., Oh, J., Oreja-Guevara, C., Orssaud, C., Osborne, B., Outteryck, O., Paiva, C., Palace, J., Papadopoulou, A., Patsopoulos, N., Pontikos, N., Preising, M., Prince, J., Reich, D., Rejdak, R., Ringelstein, M., Rodriguez de Antonio, L., Sahel, J. -A., Sanchez-Dalmau, B., Sastre-Garriga, J., Schippling, S., Schuman, J., Shindler, K., Shin, R., Shuey, N., Soelberg, K., Specovius, S., Suppiej, A., Thompson, A., Toosy, A., Torres, R., Touitou, V., Trauzettel-Klosinski, S., van der Walt, A., Vermersch, P., Vidal-Jordana, A., Waldman, A. T., Waters, C., Wheeler, R., White, O., Wilhelm, H., Winges, K. M., Wiegerinck, N., Wiehe, L., Wisnewski, T., Wong, S., Wurfel, J., Yaghi, S., You, Y., Yu, Z., Yu-Wai-Man, P., Zemaitien≐, R., Zimmermann, H., Albrecht P., Petzold A., Balcer, L., Bekkers, E., Brandt, A. U., Calabresi, P. A., Deborah, O. G., Graves, J. S., Green, A., Keane, P. A., Nij Bijvank, J. A., Sander, J. W., Paul, F., Saidha, S., Villoslada, P., Wagner, S. K., Yeh, E. A., Aktas, O., Antel, J., Asgari, N., Audo, I., Avasarala, J., Avril, D., Bagnato, F. R., Banwell, B., Bar-Or, A., Behbehani, R., Manterola, A. B., Bennett, J., Benson, L., Bernard, J., Bremond-Gignac, D., Britze, J., Burton, J., Calkwood, J., Carroll, W., Chandratheva, A., Cohen, J., Comi, G., Cordano, C., Costa, S., Costello, F., Courtney, A., Cruz-Herranz, A., Cutter, G., Crabb, D., Delott, L., De Seze, J., Diem, R., Dollfuss, H., El Ayoubi, N. K., Fasser, C., Finke, C., Fischer, D., Fitzgerald, K., Fonseca, P., Frederiksen, J. L., Frohman, E., Frohman, T., Fujihara, K., Cuellar, I. G., Galetta, S., Garcia-Martin, E., Giovannoni, G., Glebauskiene, B., Suarez, I. G., P. , Jensen, G., Hamann, S., Hartung, H. -P., Havla, J., Hemmer, B., Huang, S. -C., Imitola, J., Jasinskas, V., Jiang, H., Kafieh, R., Kappos, L., Kardon, R., Keegan, D., Kildebeck, E., Kim, U. S., Klistorner, S., Knier, B., Kolbe, S., Korn, T., Krupp, L., Lagreze, W., Leocani, L., Levin, N., Liskova, P., Preiningerova, J. L., Lorenz, B., May, E., Miller, D., Mikolajczak, J., Said, S. M., Montalban, X., Morrow, M., Mowry, E., Murta, J., Navas, C., Nolan, R., Nowomiejska, K., Oertel, F. C., Oh, J., Oreja-Guevara, C., Orssaud, C., Osborne, B., Outteryck, O., Paiva, C., Palace, J., Papadopoulou, A., Patsopoulos, N., Pontikos, N., Preising, M., Prince, J., Reich, D., Rejdak, R., Ringelstein, M., Rodriguez de Antonio, L., Sahel, J. -A., Sanchez-Dalmau, B., Sastre-Garriga, J., Schippling, S., Schuman, J., Shindler, K., Shin, R., Shuey, N., Soelberg, K., Specovius, S., Suppiej, A., Thompson, A., Toosy, A., Torres, R., Touitou, V., Trauzettel-Klosinski, S., van der Walt, A., Vermersch, P., Vidal-Jordana, A., Waldman, A. T., Waters, C., Wheeler, R., White, O., Wilhelm, H., Winges, K. M., Wiegerinck, N., Wiehe, L., Wisnewski, T., Wong, S., Wurfel, J., Yaghi, S., You, Y., Yu, Z., Yu-Wai-Man, P., Zemaitien≐, R., and Zimmermann, H.

Subjects
0301 basic medicine, Big Data, medicine.medical_specialty, Neurology, media_common.quotation_subject, Big data, MEDLINE, Reviews, Socio-culturale, Neurosciences. Biological psychiatry. Neuropsychiatry, Review, Public domain, Retina, Cohort Studies, 03 medical and health sciences, Annotation, 0302 clinical medicine, Artificial Intelligence, medicine, Humans, Quality (business), RC346-429, Tomography, media_common, Image pattern recognition, business.industry, General Neuroscience, Nervous System Diseases, Tomography, Optical Coherence, Algorithms, 030104 developmental biology, Optical Coherence, Imaging technology, RC0321, Neurology. Diseases of the nervous system, Neurology (clinical), Artificial intelligence, sense organs, business, 030217 neurology & neurosurgery, RC321-571
Abstract

Artificial intelligence (AI)‐based diagnostic algorithms have achieved ambitious aims through automated image pattern recognition. For neurological disorders, this includes neurodegeneration and inflammation. Scalable imaging technology for big data in neurology is optical coherence tomography (OCT). We highlight that OCT changes observed in the retina, as a window to the brain, are small, requiring rigorous quality control pipelines. There are existing tools for this purpose. Firstly, there are human‐led validated consensus quality control criteria (OSCAR‐IB) for OCT. Secondly, these criteria are embedded into OCT reporting guidelines (APOSTEL). The use of the described annotation of failed OCT scans advances machine learning. This is illustrated through the present review of the advantages and disadvantages of AI‐based applications to OCT data. The neurological conditions reviewed here for the use of big data include Alzheimer disease, stroke, multiple sclerosis (MS), Parkinson disease, and epilepsy. It is noted that while big data is relevant for AI, ownership is complex. For this reason, we also reached out to involve representatives from patient organizations and the public domain in addition to clinical and research centers. The evidence reviewed can be grouped in a five‐point expansion of the OSCAR‐IB criteria to embrace AI (OSCAR‐AI). The review concludes by specific recommendations on how this can be achieved practically and in compliance with existing guidelines.

Published
2021

12. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Author

Silvennoinen K., de Lange N., Zagaglia S., Balestrini S., Androsova G., Wassenaar M., Auce P., Avbersek A., Becker F., Berghuis B., Campbell E., Coppola A., Francis B., Wolking S., Cavalleri G. L., Craig J., Delanty N., Johnson M. R., Koeleman B. P. C., Kunz W. S., Lerche H., Marson A. G., O'Brien T. J., Sander J. W., Sills G. J., Striano P., Zara F., van der Palen J., Krause R., Depondt C., Sisodiya S. M., Brodie M. J., Chinthapalli K., de Haan G. -J., Doherty C. P., Heavin S., McCormack M., Petrovski S., Sargsyan N., Slattery L., Willis J., National Institute for Health Research, Silvennoinen, K., de Lange, N., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., Cavalleri, G. L., Craig, J., Delanty, N., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Sander, J. W., Sills, G. J., Striano, P., Zara, F., van der Palen, J., Krause, R., Depondt, C., Sisodiya, S. M., Brodie, M. J., Chinthapalli, K., de Haan, G. -J., Doherty, C. P., Heavin, S., Mccormack, M., Petrovski, S., Sargsyan, N., Slattery, L., and Willis, J.

Subjects
Topiramate, Pediatrics, medicine.medical_specialty, Neurology [D14] [Human health sciences], seizure, adverse drug reaction, Clinical Neurology, Lamotrigine, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Journal Article, medicine, 030212 general & internal medicine, EpiPGX Consortium, tolerability, lcsh:Neurology. Diseases of the nervous system, seizures, adverse drug reactions, Neurologie [D14] [Sciences de la santé humaine], business.industry, Weight change, Généralités, Carbamazepine, medicine.disease, 3. Good health, valproate, Neurology, Tolerability, Full‐length Original Research, Neurology (clinical), Levetiracetam, Juvenile myoclonic epilepsy, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Objective: To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME). Methods: People with JME were identified from a large database of individuals with epilepsy, which includes detailed retrospective information on AED use. We assessed secular changes in AED use and calculated rates of response (12-month seizure freedom) and adverse drug reactions (ADRs) for the five most common AEDs. Retention was modeled with a Cox proportional hazards model. We compared valproate use between males and females. Results: We included 305 people with 688 AED trials of valproate, lamotrigine, levetiracetam, carbamazepine, and topiramate. Valproate and carbamazepine were most often prescribed as the first AED. The response rate to valproate was highest among the five AEDs (42.7%), and significantly higher than response rates for lamotrigine, carbamazepine, and topiramate; the difference to the response rate to levetiracetam (37.1%) was not significant. The rates of ADRs were highest for topiramate (45.5%) and valproate (37.5%). Commonest ADRs included weight change, lethargy, and tremor. In the Cox proportional hazards model, later start year (1.10 [1.08-1.13], P, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

14. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Author

Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F., Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Department of Medical and Clinical Genetics, Medicum, Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., and Park, Kristen

Subjects
GABA receptors, Neurology [D14] [Human health sciences], Clinical Sciences, GABA(A) receptors, GABRG2, familial epilepsy, Article, Clinical Research, Receptors, Exome Sequencing, Genetics, 2.1 Biological and endogenous factors, Humans, GGE, Genetic Predisposition to Disease, sporadic epilepsy, EpiPGX Consortium, Aetiology, gamma-Aminobutyric Acid, GABAA receptors, Epi4K Consortium, Epilepsy, Neurology & Neurosurgery, Neurologie [D14] [Sciences de la santé humaine], Generalized, GABA-A, Prevention, Human Genome, Neurosciences, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, Receptors, GABA-A, EuroEPINOMICS-CoGIE Consortium, Neurology, Case-Control Studies, Epilepsy, Generalized, Canadian Epilepsy Network, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], 3111 Biomedicine, Human medicine, Génétique & processus génétiques [F10] [Sciences du vivant], Epilepsy Phenome/Genome Project
Abstract

ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE.MethodsWe performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 945 individuals with familial GGE (vs. 8626 controls), and finally in 1005 individuals with sporadic GGE (vs. 8621 controls). We additionally examined the association of URVs with familial and sporadic GGE in two gene sets important for inhibitory signaling (19genes encoding γ-aminobutyric acid type A [GABAA ] receptors, 113genes representing the GABAergic pathway).ResultsGABRG2 was associated with GGE (p=1.8×10-5 ), approaching study-wide significance in familial GGE (p=3.0×10-6 ), whereas no gene approached a significant association with sporadic GGE. Deleterious URVs in the most intolerant subgenic regions in genes encoding GABAA receptors were associated with familial GGE (odds ratio [OR]=3.9, 95% confidence interval [CI]=1.9-7.8, false discovery rate [FDR]-adjusted p=.0024), whereas their association with sporadic GGE had marginally lower odds (OR=3.1, 95% CI=1.3-6.7, FDR-adjusted p=.022). URVs in GABAergic pathway genes were associated with familial GGE (OR=1.8, 95% CI=1.3-2.5, FDR-adjusted p=.0024) but not with sporadic GGE (OR=1.3, 95% CI=.9-1.9, FDR-adjusted p=.19).SignificanceURVs in GABRG2 are likely an important risk factor for familial GGE. The association of gene sets of GABAergic signaling with familial GGE is more prominent than with sporadic GGE.

Published
2022

19. Infantile Spasms and Vigabatrin

Author

Osborne, John P., Edwards, Stuart W., Hancock, Eleanor, Lux, Andrew L., O'Callaghan, Finbar, Johnson, Tony, Kennedy, Colin R., Newton, Richard W., Verity, Christopher M., Lhatoo, S. D., and Sander, J. W. A. S.

Published
1999

23. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

Author

Wolking, S., Moreau, C., Mccormack, M., Krause, R., Krenn, M., Berkovic, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Lerche, H., Marson, A. G., O'Brien, T. J., Petrovski, S., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Zimprich, F., Sisodiya, S. M., Girard, S. L., Cossette, P., Avbersek, A., Leu, C., Heggeli, K., Demurtas, R., Willis, J., Speed, D., Sargsyan, N., Chinthapalli, K., Borghei, M., Coppola, A., Gambardella, A., Becker, F., Rau, S., Hengsbach, C., Weber, Y. G., Berghuis, B., Campbell, E., Gudmundsson, L. J., Ingason, A., Stefansson, K., Schneider, R., Balling, R., Auce, P., Francis, B., Jorgensen, A., Morris, A., Langley, S., Srivastava, P., Brodie, M., Todaro, M., Hutton, J., Muhle, H., Klein, K. M., Moller, R. S., Nikanorova, M., Weckhuysen, S., Rener-Primec, Z., Craig, J., and Stefansson, H.

Subjects
0301 basic medicine, Male, Candidate gene, Drug Resistant Epilepsy, Neurology [D14] [Human health sciences], Neurosciences. Biological psychiatry. Neuropsychiatry, Drug resistance, Bioinformatics, Polymorphism, Single Nucleotide, Whole Exome Sequencing, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Polymorphism, RC346-429, Gene, Exome sequencing, Research Articles, Genetic Association Studies, Neurologie [D14] [Sciences de la santé humaine], business.industry, General Neuroscience, Genetic variants, Genetic Variation, Single Nucleotide, medicine.disease, DEPDC5, Female, 030104 developmental biology, Cohort, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, RC321-571, Research Article
Abstract

Annals of Clinical and Translational Neurology 8(7), 1376-1387 (2021). doi:10.1002/acn3.51374, Published by Wiley, Chichester [u.a.]

Published
2021

49. A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

Author

Berghuis, B., Stapleton, C., Sonsma, A. C. M., Hulst, J., de Haan, G. -J., Lindhout, D., Demurtas, R., Krause, R., Depondt, C., Kunz, W. S., Zara, F., Striano, P., Craig, J., Auce, P., Marson, A. G., Stefansson, H., O'Brien, T. J., Johnson, M. R., Sills, G. J., Wolking, S., Lerche, H., Sisodiya, S. M., Sander, J. W., Cavalleri, G. L., Koeleman, B. P. C., Mccormack, M., Avbersek, A., Leu, C., Heggeli, K., Willis, J., Speed, D., Sargsyan, N., Chinthapalli, K., Borghei, M., Coppola, A., Gambardella, A., Becker, F., Rau, S., Hengsbach, C., Weber, Y. G., Delanty, N., Campbell, E., Gudmundsson, L. J., Ingason, A., Stefansson, K., Schneider, R., Balling, R., Francis, B., Jorgensen, A., Morris, A., Langley, S., Srivastava, P., Brodie, M., Todaro, M., Petrovski, S., Hutton, J., Zimprich, F., Krenn, M., Muhle, H., Martin Klein, K., Moller, R., Nikanorova, M., Weckhuysen, S., Rener-Primec, Z., Berghuis, Bianca, Stapleton, Caragh, Sonsma, Anja C. M., Hulst, Janic, de Haan, Gerrit-Jan, Lindhout, Dick, Demurtas, Rita, Krause, Roland, Depondt, Chantal, Kunz, Wolfram S., Zara, Federico, Striano, Pasquale, Craig, John, Auce, Paul, Marson, Anthony G., Stefansson, Hreinn, O'Brien, Terence J., Johnson, Michael R., Sills, Graeme J., Wolking, Stefan, Lerche, Holger, Sisodiya, Sanjay M., Sander, Josemir W., Cavalleri, Gianpiero L., Koeleman, Bobby P. C., Mccormack, Mark, Weckhuysen, Sarah, EpiPGX Consortium, Imperial College Healthcare NHS Trust- BRC Funding, and Commission of the European Communities

Subjects
medicine.medical_specialty, hyponatremia, Clinical Neurology, Gastroenterology, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, adverse effects, antiepileptic drugs, EpiPGX Consortium, GWAS, antiepileptic drug, Internal medicine, adverse effect, medicine, Oxcarbazepine, Adverse effect, 030304 developmental biology, 0303 health sciences, business.industry, Généralités, Carbamazepine, medicine.disease, 3. Good health, Neurology, Cohort, Full‐length Original Research, Phenobarbital, Human medicine, Neurology (clinical), Hyponatremia, business, 030217 neurology & neurosurgery, Drug metabolism, medicine.drug
Abstract

Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (COIH), and to carbamazepine (CBZ) metabolism, in a retrospectively collected, cross-sectional cohort of people with epilepsy. Methods: We collected data on serum sodium levels and antiepileptic drug levels in people with epilepsy attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L. We estimated the CBZ metabolic ratio defined as the log transformation of the ratio of metabolite CBZ-diol to unchanged drug precursor substrate as measured in serum. Results: Clinical and genetic data relating to carbamazepine and oxcarbazepine trials were collected in 1141 patients. We did not observe any genome-wide significant associations with sodium level in a linear trend or hyponatremia as a dichotomous trait. Age, sex, number of comedications, phenytoin use, phenobarbital use, and sodium valproate use were significant predictors of CBZ metabolic ratio. No genome-wide significant associations with CBZ metabolic ratio were found. Significance: Although we did not detect a genetic predictor of hyponatremia or CBZ metabolism in our cohort, our findings suggest that the determinants of CBZ metabolism are multifactorial., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

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