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2. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

Author

van der Geest, Astrid T., Jakobs, Channa E., Ljubikj, Tijana, Huffels, Christiaan F. M., Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H., Kaal, Marthe, Zwartkruis, Maria M., Carcolé, Mireia, Groen, Ewout J. N., Hol, Elly M., Basak, Onur, Isaacs, Adrian M., Westeneng, Henk-Jan, van den Berg, Leonard H., Veldink, Jan H., Schlegel, Domino K., and Pasterkamp, R. Jeroen

Published
2024
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3. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

Author

TN groep Pasterkamp, Brain, Regenerative Medicine and Stem Cells, TN groep Hol, Projectafdeling SvS, Translational Neuroscience, Cancer, Projectafdeling ALS, Neurologen, Neurogenetica, Genetic Risks, van der Geest, Astrid T, Jakobs, Channa E, Ljubikj, Tijana, Huffels, Christiaan F M, Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H, Kaal, Marthe, Zwartkruis, Maria M, Carcolé, Mireia, Groen, Ewout J N, Hol, Elly M, Basak, Onur, Isaacs, Adrian M, Westeneng, Henk-Jan, van den Berg, Leonard H, Veldink, Jan H, Schlegel, Domino K, Pasterkamp, R Jeroen, TN groep Pasterkamp, Brain, Regenerative Medicine and Stem Cells, TN groep Hol, Projectafdeling SvS, Translational Neuroscience, Cancer, Projectafdeling ALS, Neurologen, Neurogenetica, Genetic Risks, van der Geest, Astrid T, Jakobs, Channa E, Ljubikj, Tijana, Huffels, Christiaan F M, Cañizares Luna, Marta, Vieira de Sá, Renata, Adolfs, Youri, de Wit, Marina, Rutten, Daan H, Kaal, Marthe, Zwartkruis, Maria M, Carcolé, Mireia, Groen, Ewout J N, Hol, Elly M, Basak, Onur, Isaacs, Adrian M, Westeneng, Henk-Jan, van den Berg, Leonard H, Veldink, Jan H, Schlegel, Domino K, and Pasterkamp, R Jeroen

Published
2024

4. Expression of Circ_Satb1 Is Decreased in Mesial Temporal Lobe Epilepsy and Regulates Dendritic Spine Morphology

Author

TN groep Pasterkamp, Brain, Neurochirurgen, Cancer, Translational Neuroscience, Regenerative Medicine and Stem Cells, Gomes-Duarte, Andreia, Venø, Morten T., de Wit, Marina, Senthilkumar, Ketharini, Broekhoven, Mark H., van den Herik, Joëlle, Heeres, Fleur R., van Rossum, Daniëlle, Rybiczka-Tesulov, Mateja, Legnini, Ivano, van Rijen, Peter C., van Eijsden, Pieter, Gosselaar, Peter H., Rajewsky, Nikolaus, Kjems, Jørgen, Vangoor, Vamshidhar R., Pasterkamp, R. Jeroen, TN groep Pasterkamp, Brain, Neurochirurgen, Cancer, Translational Neuroscience, Regenerative Medicine and Stem Cells, Gomes-Duarte, Andreia, Venø, Morten T., de Wit, Marina, Senthilkumar, Ketharini, Broekhoven, Mark H., van den Herik, Joëlle, Heeres, Fleur R., van Rossum, Daniëlle, Rybiczka-Tesulov, Mateja, Legnini, Ivano, van Rijen, Peter C., van Eijsden, Pieter, Gosselaar, Peter H., Rajewsky, Nikolaus, Kjems, Jørgen, Vangoor, Vamshidhar R., and Pasterkamp, R. Jeroen

Published
2022

5. Expression of Circ_Satb1 Is Decreased in Mesial Temporal Lobe Epilepsy and Regulates Dendritic Spine Morphology

Author

Gomes-Duarte, Andreia, primary, Venø, Morten T., additional, de Wit, Marina, additional, Senthilkumar, Ketharini, additional, Broekhoven, Mark H., additional, van den Herik, Joëlle, additional, Heeres, Fleur R., additional, van Rossum, Daniëlle, additional, Rybiczka-Tesulov, Mateja, additional, Legnini, Ivano, additional, van Rijen, Peter C., additional, van Eijsden, Pieter, additional, Gosselaar, Peter H., additional, Rajewsky, Nikolaus, additional, Kjems, Jørgen, additional, Vangoor, Vamshidhar R., additional, and Pasterkamp, R. Jeroen, additional

Published
2022
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7. Compartment-specific total RNA profile of Hippocampal and Cortical cells from Mesial Temporal Lobe Epilepsy tissue

Author

Vangoor, Vamshidhar R, primary, Giuliani, Giuliano, additional, de Wit, Marina, additional, Veno, Morten T., additional, Puhakka, Noora, additional, Gomes-Duarte, Andreia, additional, van Rijen, Peter C., additional, Gosselaar, Peter H., additional, van Eijsden, Pieter, additional, Kjems, Jorgen, additional, de Graan, Pierre N.E., additional, and Pasterkamp, R. Jeroen, additional

Published
2021
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14. Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

Author

Vangoor, Vamshidhar R., Reschke, Cristina R., Senthilkumar, Ketharini, van de Haar, Lieke L., de Wit, Marina, Giuliani, Giuliano, Broekhoven, Mark H., Morris, Gareth, Engel, Tobias, Brennan, Gary P., Conroy, Ronan M., van Rijen, Peter C., Gosselaar, Peter H., Schorge, Stephanie, Schaapveld, Roel Q.J., Henshall, David C., De Graan, Pierre N.E., Pasterkamp, R. Jeroen, Vangoor, Vamshidhar R., Reschke, Cristina R., Senthilkumar, Ketharini, van de Haar, Lieke L., de Wit, Marina, Giuliani, Giuliano, Broekhoven, Mark H., Morris, Gareth, Engel, Tobias, Brennan, Gary P., Conroy, Ronan M., van Rijen, Peter C., Gosselaar, Peter H., Schorge, Stephanie, Schaapveld, Roel Q.J., Henshall, David C., De Graan, Pierre N.E., and Pasterkamp, R. Jeroen

Published
2019

15. Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

Author

UMC Utrecht, TN groep Pasterkamp, Brain, Zorglijn FNE Medisch, Regenerative Medicine and Stem Cells, Vangoor, Vamshidhar R., Reschke, Cristina R., Senthilkumar, Ketharini, van de Haar, Lieke L., de Wit, Marina, Giuliani, Giuliano, Broekhoven, Mark H., Morris, Gareth, Engel, Tobias, Brennan, Gary P., Conroy, Ronan M., van Rijen, Peter C., Gosselaar, Peter H., Schorge, Stephanie, Schaapveld, Roel Q.J., Henshall, David C., De Graan, Pierre N.E., Pasterkamp, R. Jeroen, UMC Utrecht, TN groep Pasterkamp, Brain, Zorglijn FNE Medisch, Regenerative Medicine and Stem Cells, Vangoor, Vamshidhar R., Reschke, Cristina R., Senthilkumar, Ketharini, van de Haar, Lieke L., de Wit, Marina, Giuliani, Giuliano, Broekhoven, Mark H., Morris, Gareth, Engel, Tobias, Brennan, Gary P., Conroy, Ronan M., van Rijen, Peter C., Gosselaar, Peter H., Schorge, Stephanie, Schaapveld, Roel Q.J., Henshall, David C., De Graan, Pierre N.E., and Pasterkamp, R. Jeroen

Published
2019

16. Protein expression profiling of inflammatory mediators in human temporal lobe epilepsy reveals co-activation of multiple chemokines and cytokines

Author

Kan Anne A, de Jager Wilco, de Wit Marina, Heijnen Cobi, van Zuiden Mirjam, Ferrier Cyrill, van Rijen Peter, Gosselaar Peter, Hessel Ellen, van Nieuwenhuizen Onno, and de Graan Pierre N E

Subjects
Temporal lobe epilepsy, Immune system, Network analysis, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Mesial temporal lobe epilepsy (mTLE) is a chronic and often treatment-refractory brain disorder characterized by recurrent seizures originating from the hippocampus. The pathogenic mechanisms underlying mTLE remain largely unknown. Recent clinical and experimental evidence supports a role of various inflammatory mediators in mTLE. Here, we performed protein expression profiling of 40 inflammatory mediators in surgical resection material from mTLE patients with and without hippocampal sclerosis, and autopsy controls using a multiplex bead-based immunoassay. In mTLE patients we identified 21 upregulated inflammatory mediators, including 10 cytokines and 7 chemokines. Many of these upregulated mediators have not previously been implicated in mTLE (for example, CCL22, IL-7 and IL-25). Comparing the three patient groups, two main hippocampal expression patterns could be distinguished, pattern I (for example, IL-10 and IL-25) showing increased expression in mTLE + HS patients compared to mTLE-HS and controls, and pattern II (for example, CCL4 and IL-7) showing increased expression in both mTLE groups compared to controls. Upregulation of a subset of inflammatory mediators (for example, IL-25 and IL-7) could not only be detected in the hippocampus of mTLE patients, but also in the neocortex. Principle component analysis was used to cluster the inflammatory mediators into several components. Follow-up analyses of the identified components revealed that the three patient groups could be discriminated based on their unique expression profiles. Immunocytochemistry showed that IL-25 IR (pattern I) and CCL4 IR (pattern II) were localized in astrocytes and microglia, whereas IL-25 IR was also detected in neurons. Our data shows co-activation of multiple inflammatory mediators in hippocampus and neocortex of mTLE patients, indicating activation of multiple pro- and anti-epileptogenic immune pathways in this disease.

Published
2012
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17. Praktijkleren: leren in de praktijk

Author

Kroes, Jolanda, Boer, Marjo, Karbounaris, Simona, de Wit, Marina, and Rehabilitatie

Subjects
action learning, beroepspraktijk, begeleiding, ervaringsleren, health care
Abstract

De relatie met de beroepspraktijk is belangrijk in het leren toepassen van de competenties van het vak ervaringsdeskundige. Veelal werken zij in organisaties en werkvelden waar het werken met deze functie nog in ontwikkeling is. Daarnaast onderscheid het zich van andere deskundigheid omdat de werker het vermogen heeft om op grond van eigen herstelervaringen voor anderen ruimte te maken voor herstel. Waaraan moet een goede leeromgeving in de praktijk bestaan voor deze nieuwe beroepsgroep?

Published
2018

18. Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

Author

Vangoor, Vamshidhar R., primary, Reschke, Cristina R., additional, Senthilkumar, Ketharini, additional, van de Haar, Lieke L., additional, de Wit, Marina, additional, Giuliani, Giuliano, additional, Broekhoven, Mark H., additional, Morris, Gareth, additional, Engel, Tobias, additional, Brennan, Gary P., additional, Conroy, Ronan M., additional, van Rijen, Peter C., additional, Gosselaar, Peter H., additional, Schorge, Stephanie, additional, Schaapveld, Roel Q.J., additional, Henshall, David C., additional, De Graan, Pierre N.E., additional, and Pasterkamp, R. Jeroen, additional

Published
2019
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21. Identification of Srp9 as a febrile seizure susceptibility gene

Author

Hessel, Ellen V S, de Wit, Marina, Wolterink-Donselaar, Inge G, Karst, Henk, de Graaff, Esther, van Lith, Hein A, de Bruijn, Ewart, de Sonnaville, Sophietje, Verbeek, Nienke E, Lindhout, Dick, de Kovel, Carolien G F, Koeleman, Bobby P C, van Kempen, Marjan, Brilstra, Eva, Cuppen, Edwin, Loos, Maarten, Spijker, Sabine S, Kan, Anne A, Baars, Susanne E, van Rijen, Peter C, Gosselaar, Peter H, Groot Koerkamp, Marian J A, Holstege, Frank C P, van Duijn, Cornelia, Vergeer, Jeanette, Moll, Henriette A, Taubøll, Erik, Heuser, Kjell, Ramakers, Geert M J, Pasterkamp, R Jeroen, van Nieuwenhuizen, Onno, Hoogenraad, Casper C, Kas, Martien J H, de Graan, Pierre N E, Sub Cell Biology, LS Dierenwelzijn & Proefdierkunde, Sub Cell Biology, LS Dierenwelzijn & Proefdierkunde, Center for Neurogenomics and Cognitive Research, Molecular and Cellular Neurobiology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Hubrecht Institute for Developmental Biology and Stem Cell Research, and Netherlands Institute for Neuroscience (NIN)

Subjects
Genetics, Gene knockdown, Candidate gene, General Neuroscience, Glutamate receptor, AMPA receptor, Biology, Hippocampal formation, medicine.disease, Molecular biology, Research Papers, Downregulation and upregulation, Febrile seizure, medicine, Neurology (clinical), Gene
Abstract

Objective: Febrile seizures (FS) are the most common seizure type in young children. Complex FS are a risk factor for mesial temporal lobe epilepsy (mTLE). To identify new FS susceptibility genes we used a forward genetic strategy in mice and subsequently analyzed candidate genes in humans. Methods: We mapped a quantitative trait locus (QTL1) for hyperthermia-induced FS on mouse chromosome 1, containing the signal recognition particle 9 (Srp9) gene. Effects of differential Srp9 expression were assessed in vivo and in vitro. Hippocampal SRP9 expression and genetic association were analyzed in FS and mTLE patients. Results: Srp9 was differentially expressed between parental strains C57BL/6J and A/J. Chromosome substitution strain 1 (CSS1) mice exhibited lower FS susceptibility and Srp9 expression than C57BL/6J mice. In vivo knockdown of brain Srp9 reduced FS susceptibility. Mice with reduced Srp9 expression and FS susceptibility, exhibited reduced hippocampal AMPA and NMDA currents. Downregulation of neuronal Srp9 reduced surface expression of AMPA receptor subunit GluA1. mTLE patients with antecedent FS had higher SRP9 expression than patients without. SRP9 promoter SNP rs12403575(G/A) was genetically associated with FS and mTLE. Interpretation: Our findings identify SRP9 as a novel FS susceptibility gene and indicate that SRP9 conveys its effects through endoplasmic reticulum (ER)-dependent synthesis and trafficking of membrane proteins, such as glutamate receptors. Discovery of this new FS gene and mechanism may provide new leads for early diagnosis and treatment of children with complex FS at risk for mTLE.

Published
2014

23. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a

Author

Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, de Graan, Pierre N E, Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, and de Graan, Pierre N E

Published
2016

24. Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

Author

Dutch Molecular Pathology Centre, LS Pathobiologie, Regenerative Medicine, Stem Cells & Cancer, dPB RMSC, Sudria-Lopez, Emma, Koppers, Max, de Wit, Marina, van der Meer, Christiaan, Westeneng, Henk-Jan, Zundel, Caroline A C, Youssef, Sameh A, Harkema, Liesbeth, de Bruin, Alain, Veldink, Jan H, van den Berg, Leonard H, Pasterkamp, R Jeroen, Dutch Molecular Pathology Centre, LS Pathobiologie, Regenerative Medicine, Stem Cells & Cancer, dPB RMSC, Sudria-Lopez, Emma, Koppers, Max, de Wit, Marina, van der Meer, Christiaan, Westeneng, Henk-Jan, Zundel, Caroline A C, Youssef, Sameh A, Harkema, Liesbeth, de Bruin, Alain, Veldink, Jan H, van den Berg, Leonard H, and Pasterkamp, R Jeroen

Published
2016

25. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a

Author

TN groep Adan, Translational Neuroscience 4-2, Groep Holstege, Translational Neuroscience 5, Brain, Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, de Graan, Pierre N E, TN groep Adan, Translational Neuroscience 4-2, Groep Holstege, Translational Neuroscience 5, Brain, Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, and de Graan, Pierre N E

Published
2016

26. Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

Author

TN groep Pasterkamp, Brain, Projectafdeling ALS, Opleidingen N&N, Neurogenetica, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Sudria-Lopez, Emma, Koppers, Max, de Wit, Marina, van der Meer, Christiaan, Westeneng, Henk Jan, Zundel, Caroline A C, Youssef, Sameh A., Harkema, Liesbeth, de Bruin, Alain, Veldink, Jan H., van Den Berg, Leonard H., Pasterkamp, R. Jeroen, TN groep Pasterkamp, Brain, Projectafdeling ALS, Opleidingen N&N, Neurogenetica, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Sudria-Lopez, Emma, Koppers, Max, de Wit, Marina, van der Meer, Christiaan, Westeneng, Henk Jan, Zundel, Caroline A C, Youssef, Sameh A., Harkema, Liesbeth, de Bruin, Alain, Veldink, Jan H., van Den Berg, Leonard H., and Pasterkamp, R. Jeroen

Published
2016

27. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a

Author

LS Dierenwelzijn & Proefdierkunde, dASS BW-2, Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, de Graan, Pierre N E, LS Dierenwelzijn & Proefdierkunde, dASS BW-2, Hessel, Ellen V S, van Lith, Hein A, Wolterink-Donselaar, Inge G, de Wit, Marina, Groot Koerkamp, Marian J A, Holstege, Frank C P, Kas, Martien J H, Fernandes, Cathy, and de Graan, Pierre N E

Published
2016

28. Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

Author

Jongbloets, Bart C, van Gassen, Koen L I, Kan, Anne A, Olde Engberink, Anneke H O, de Wit, Marina, Wolterink-Donselaar, Inge G, Groot Koerkamp, Marian J A, van Nieuwenhuizen, Onno, Holstege, Frank C P, de Graan, Pierre N E, Jongbloets, Bart C, van Gassen, Koen L I, Kan, Anne A, Olde Engberink, Anneke H O, de Wit, Marina, Wolterink-Donselaar, Inge G, Groot Koerkamp, Marian J A, van Nieuwenhuizen, Onno, Holstege, Frank C P, and de Graan, Pierre N E

Published
2015

29. Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

Author

TN groep Ramakers, Genetica Sectie Genoomdiagnostiek, Child Health, NVIC, TN groep Adan, Groep Holstege, ZL Kinder Ner en Nec Medisch, Cancer, Translational Neuroscience 4-2, Brain, Jongbloets, Bart C, van Gassen, Koen L I, Kan, Anne A, Olde Engberink, Anneke H O, de Wit, Marina, Wolterink-Donselaar, Inge G, Groot Koerkamp, Marian J A, van Nieuwenhuizen, Onno, Holstege, Frank C P, de Graan, Pierre N E, TN groep Ramakers, Genetica Sectie Genoomdiagnostiek, Child Health, NVIC, TN groep Adan, Groep Holstege, ZL Kinder Ner en Nec Medisch, Cancer, Translational Neuroscience 4-2, Brain, Jongbloets, Bart C, van Gassen, Koen L I, Kan, Anne A, Olde Engberink, Anneke H O, de Wit, Marina, Wolterink-Donselaar, Inge G, Groot Koerkamp, Marian J A, van Nieuwenhuizen, Onno, Holstege, Frank C P, and de Graan, Pierre N E

Published
2015

30. Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the Hippocampus

Author

Jongbloets, Bart C., primary, van Gassen, Koen L. I., additional, Kan, Anne A., additional, Olde Engberink, Anneke H. O., additional, de Wit, Marina, additional, Wolterink-Donselaar, Inge G., additional, Groot Koerkamp, Marian J. A., additional, van Nieuwenhuizen, Onno, additional, Holstege, Frank C. P., additional, and de Graan, Pierre N. E., additional

Published
2015
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31. Identification of Srp9 as a febrile seizure susceptibility gene

Author

Sub Cell Biology, LS Dierenwelzijn & Proefdierkunde, Hessel, Ellen V S, de Wit, Marina, Wolterink-Donselaar, Inge G, Karst, Henk, de Graaff, Esther, van Lith, Hein A, de Bruijn, Ewart, de Sonnaville, Sophietje, Verbeek, Nienke E, Lindhout, Dick, de Kovel, Carolien G F, Koeleman, Bobby P C, van Kempen, Marjan, Brilstra, Eva, Cuppen, Edwin, Loos, Maarten, Spijker, Sabine S, Kan, Anne A, Baars, Susanne E, van Rijen, Peter C, Gosselaar, Peter H, Groot Koerkamp, Marian J A, Holstege, Frank C P, van Duijn, Cornelia, Vergeer, Jeanette, Moll, Henriette A, Taubøll, Erik, Heuser, Kjell, Ramakers, Geert M J, Pasterkamp, R Jeroen, van Nieuwenhuizen, Onno, Hoogenraad, Casper C, Kas, Martien J H, de Graan, Pierre N E, Sub Cell Biology, LS Dierenwelzijn & Proefdierkunde, Hessel, Ellen V S, de Wit, Marina, Wolterink-Donselaar, Inge G, Karst, Henk, de Graaff, Esther, van Lith, Hein A, de Bruijn, Ewart, de Sonnaville, Sophietje, Verbeek, Nienke E, Lindhout, Dick, de Kovel, Carolien G F, Koeleman, Bobby P C, van Kempen, Marjan, Brilstra, Eva, Cuppen, Edwin, Loos, Maarten, Spijker, Sabine S, Kan, Anne A, Baars, Susanne E, van Rijen, Peter C, Gosselaar, Peter H, Groot Koerkamp, Marian J A, Holstege, Frank C P, van Duijn, Cornelia, Vergeer, Jeanette, Moll, Henriette A, Taubøll, Erik, Heuser, Kjell, Ramakers, Geert M J, Pasterkamp, R Jeroen, van Nieuwenhuizen, Onno, Hoogenraad, Casper C, Kas, Martien J H, and de Graan, Pierre N E

Published
2014

37. Hippocampal Navβ3 expression in patients with temporal lobe epilepsy.

Author

van Gassen, Koen L. I., de Wit, Marina, van Kempen, Marian, Saskia van der Hel, W., van Rijen, Peter C., Jackson, Antony P., Lindhout, Dick, and de Graan, Pierre N. E.

Subjects
*SODIUM channels, *TEMPORAL lobe epilepsy, *GENETICS of epilepsy, *IMMUNOBLOTTING, *HIPPOCAMPUS diseases, *IMMUNOHISTOCHEMISTRY
Abstract

Voltage-dependent sodium channels consist of a pore-forming alpha-subunit and regulatory beta-subunits. Alterations in these channels have been implicated in temporal lobe epilepsy (TLE) and several genetic epilepsy syndromes. Recently we identified Navβ3 as a TLE-regulated gene. Here we performed a detailed analysis of the hippocampal expression of Navβ3 in TLE patients with hippocampal sclerosis (HS) and without HS (non-HS) and compared expression with autopsy controls (ACs). Immunoblot analysis showed that Navβ3 levels were dramatically reduced in the hippocampus, but not in the cortex of non-HS patients when compared to HS patients. This was confirmed by immunohistochemistry showing reduced Navβ3 expression in all principal neurons of the hippocampus proper. Sequence analysis revealed no Navβ3 mutations. The functional consequences of the reduced Navβ3 expression in non-HS patients are unknown. Altered Navβ3 expression might influence microcircuitry in the hippocampus, affecting excitability and contributing to epileptogenesis in non-HS patients. Further experiments are required to elucidate these functional possibilities. [ABSTRACT FROM AUTHOR]

Published
2009
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42. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a.

Author

Hessel EV, van Lith HA, Wolterink-Donselaar IG, de Wit M, Groot Koerkamp MJ, Holstege FC, Kas MJ, Fernandes C, and de Graan PN

Subjects
Animals, Chromosomes genetics, Female, Humans, Male, Mice, Mice, Inbred C57BL, Polymorphism, Single Nucleotide, Sequence Homology, NAV1.1 Voltage-Gated Sodium Channel genetics, NAV1.3 Voltage-Gated Sodium Channel genetics, Quantitative Trait Loci, Seizures, Febrile genetics
Abstract

Febrile seizures (FS) are the most common seizure type in children. Recurrent FS are a risk factor for developing temporal lobe epilepsy later in life and are known to have a strong genetic component. Experimental FS (eFS) can be elicited in mice by warm-air induced hyperthermia. We used this model to screen the chromosome substitution strain (CSS) panel derived from C57BL/6J and A/J for FS susceptibility and identified C57BL/6J-Chr2 A /NaJ (CSS2), as the strain with the strongest FS susceptibility phenotype. The aim of this study was to map FS susceptibility loci and select candidate genes on mouse chromosome 2. We generated an F 2 population by intercrossing the hybrids (F 1 ) that were derived from CSS2 and C57BL/6J mice. All CSS2-F 2 individuals were genotyped and phenotyped for eFS susceptibility, and QTL analysis was performed. Candidate gene selection was based on bioinformatics analyses and differential brain expression between CSS2 and C57BL/6J strains determined by microarray analysis. Genetic mapping of the eFS susceptibility trait identified two significant loci: FS-QTL2a (LOD-score 3.6) and FS-QTL2b (LOD-score 6.2). FS-QTL2a contained 44 genes expressed in the brain at post natal day 14. Four of these (Arl6ip6, Cytip, Fmnl2 Ifih1) contained a non-synonymous SNP comparing CSS2 and C57BL/6J, six genes (March7, Nr4a2, Gpd2, Grb14, Scn1a, Scn3a) were differentially expressed between these strains. A region within FS-QTL2a is homologous to the human FEB3 locus. The fact that we identify mouse FS-QTL2a with high FEB3 homology is strong support for the validity of the eFS mouse model to study genetics of human FS., (© 2016 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.)

Published
2016
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