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111 results for Seizures,+Febrile+-+genetics

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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Author / Creator:Schubert, Julian ; Siekierska, Aleksandra ; Langlois, Mélanie ; May, Patrick ; Huneau, Clément ; Becker, Felicitas ; Muhle, Hiltrud ; Suls, Arvid ; Lemke, Johannes R ; de Kovel, Carolien G F ; Thiele, Holger ; Konrad, Kathryn ; Kawalia, Amit ; Toliat, Mohammad R ; Sander, Thomas ; Rüschendorf, Franz ; Caliebe, Almuth ; Nagel, Inga ; Kohl, Bernard ; Kecskés, Angela ; Jacmin, Maxime ; Hardies, Katia ; Weckhuysen, Sarah ; Riesch, Erik ; Dorn, Thomas ; Brilstra, Eva H ; Baulac, Stephanie ; Møller, Rikke S ; Hjalgrim, Helle ; Koeleman, Bobby P C ; Jurkat-Rott, Karin ; Lehmann-Horn, Frank ; Roach, Jared C ; Glusman, Gustavo ; Hood, Leroy ; Galas, David J ; Martin, Benoit ; de Witte, Peter A M ; Biskup, Saskia ; De Jonghe, Peter ; Helbig, Ingo ; Balling, Rudi ; Nürnberg, Peter ; Crawford, Alexander D ; Esguerra, Camila V ; Weber, Yvonne G ; Lerche, Holger
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-12, Vol.46 (12), p.1327-1332
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Author / Creator:van Bon, B W M ; Coe, B P ; Bernier, R ; Green, C ; Gerdts, J ; Witherspoon, K ; Kleefstra, T ; Willemsen, M H ; Kumar, R ; Bosco, P ; Fichera, M ; Li, D ; Amaral, D ; Cristofoli, F ; Peeters, H ; Haan, E ; Romano, C ; Mefford, H C ; Scheffer, I ; Gecz, J ; de Vries, B B A ; Eichler, E E
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132
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Genotype phenotype associations across the voltage-gated sodium channel family
Author / Creator:Brunklaus, Andreas ; Ellis, Rachael ; Reavey, Eleanor ; Semsarian, Christopher ; Zuberi, Sameer M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.650-658
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Common variants associated with general and MMR vaccine–related febrile seizures
Author / Creator:Feenstra, Bjarke ; Pasternak, Björn ; Geller, Frank ; Carstensen, Lisbeth ; Wang, Tongfei ; Huang, Fen ; Eitson, Jennifer L ; Hollegaard, Mads V ; Svanström, Henrik ; Vestergaard, Mogens ; Hougaard, David M ; Schoggins, John W ; Jan, Lily Yeh ; Melbye, Mads ; Hviid, Anders
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-12, Vol.46 (12), p.1274-1282
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IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures
Author / Creator:Song, Wang ; Bian, Wen-Jun ; Li, Hua ; Guo, Qing-Hui ; Wang, Jie ; Tang, Bin ; Zhang, Jia-Yuan ; Wei, Wei ; Liu, Xiao-Rong ; Liao, Wei-Ping ; Li, Bin ; He, Na
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-08, Vol.61 (9), p.895-903
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GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics
Author / Creator:Li, Xinxiao ; Guo, Shengnan ; Sun, Yangyang ; Ding, Jiangwei ; Chen, Chao ; Wu, Yuehui ; Li, Peidong ; Sun, Tao ; Wang, Xinjun
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2024-08, Vol.22 (1), p.767-21, Article 767
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Transcriptomic analysis reveals distinct adaptive molecular mechanism in the hippocampal CA3 from rats susceptible or not-susceptible to hyperthermia-induced seizures
Author / Creator:Bando, Silvia Y. ; Bertonha, Fernanda B. ; Menezes, Pedro H. N. ; Takahara, André K. ; Khaled, Nathália A. ; Santos, Paula ; S. Junqueira, Mara ; Cesar, Roberto M. ; Moreira-Filho, Carlos A.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-06, Vol.13 (1), p.10265-10265, Article 10265
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Identification of Reliable Reference Genes for Use in Gene Expression Studies in Rat Febrile Seizure Model
Author / Creator:Kovalenko, Anna A ; Zakharova, Maria V ; Schwarz, Alexander P ; Zubareva, Olga E ; Zaitsev, Aleksey V
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-10, Vol.25 (20), p.11125
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A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children
Author / Creator:Gómez-Carballa, Alberto ; Cebey-López, Miriam ; Pardo-Seco, Jacobo ; Barral-Arca, Ruth ; Rivero-Calle, Irene ; Pischedda, Sara ; Currás-Tuala, María José ; Gómez-Rial, José ; Barros, Francisco ; Martinón-Torres, Federico ; Salas, Antonio
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.11780-12, Article 11780
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Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome
Author / Creator:Anderson, Lyndsey L ; Bahceci, Dilara A ; Hawkins, Nicole A ; Everett-Morgan, Declan ; Banister, Samuel D ; Kearney, Jennifer A ; Arnold, Jonathon C
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-01, Vol.18 (1), p.e0280842
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Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
Author / Creator:Poliquin, Sarah ; Nwosu, Gerald ; Randhave, Karishma ; Shen, Wangzhen ; Flamm, Carson ; Kang, Jing-Qiong
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-05, Vol.25 (9), p.4601
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Ascorbic acid mitigates the impact of oxidative stress in a human model of febrile seizure and mesial temporal lobe epilepsy
Author / Creator:Scalise, Stefania ; Zannino, Clara ; Lucchino, Valeria ; Lo Conte, Michela ; Abbonante, Vittorio ; Benedetto, Giorgia Lucia ; Scalise, Mariangela ; Gambardella, Antonio ; Parrotta, Elvira Immacolata ; Cuda, Giovanni
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.5941-5941, Article 5941
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TMEM16C is involved in thermoregulation and protects rodent pups from febrile seizures
Author / Creator:Wang, Tongfei A. ; Chen, Chao ; Huang, Fen ; Feng, Shengjie ; Tien, Jason ; Braz, João M. ; Basbaum, Allan I. ; Jan, Yuh Nung ; Jan, Lily Yeh
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-05, Vol.118 (20), p.1-8
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome
Author / Creator:Singh, Nanda A ; Pappas, Chris ; Dahle, E Jill ; Claes, Lieve R F ; Pruess, Timothy H ; De Jonghe, Peter ; Thompson, Joel ; Dixon, Missy ; Gurnett, Christina ; Peiffer, Andy ; White, H Steve ; Filloux, Francis ; Leppert, Mark F
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-09, Vol.5 (9), p.e1000649
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Transient increase of interleukin-1β after prolonged febrile seizures promotes adult epileptogenesis through long-lasting upregulating endocannabinoid signaling
Author / Creator:Feng, Bo ; Tang, Yangshun ; Chen, Bin ; Xu, Cenglin ; Wang, Yi ; Dai, Yunjian ; Wu, Dengchang ; Zhu, Junmin ; Wang, Shuang ; Zhou, Yudong ; Shi, Liyun ; Hu, Weiwei ; Zhang, Xia ; Chen, Zhong
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-02, Vol.6 (1), p.21931-21931, Article 21931
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Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice
Author / Creator:Li, Xinxiao ; Guo, Shengnan ; Xu, Siying ; Chen, Zhangping ; Wang, Lei ; Ding, Jiangwei ; Huo, Junming ; Xiao, Lifei ; He, Zhenquan ; Jin, Zhe ; Wang, Feng ; Sun, Tao
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2021-05, Vol.12 (6), p.553-553, Article 553
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CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures
Author / Creator:Li, Jia ; Lin, Si‐Mei ; Qiao, Jing‐Da ; Liu, Xiao‐Rong ; Wang, Jie ; Jiang, Mi ; Zhang, Jing ; Zhong, Min ; Chen, Xu‐Qin ; Zhu, Jing ; He, Na ; Su, Tao ; Shi, Yi‐Wu ; Yi, Yong‐Hong ; Liao, Wei‐Ping
Publisher:England: John Wiley & Sons, Inc
Journal title:CNS neuroscience & therapeutics, 2022-03, Vol.28 (3), p.382-389
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GABRG2 Variants Associated with Febrile Seizures
Author / Creator:Hernandez, Ciria C ; Shen, Yanwen ; Hu, Ningning ; Shen, Wangzhen ; Narayanan, Vinodh ; Ramsey, Keri ; He, Wen ; Zou, Liping ; Macdonald, Robert L
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2023-02, Vol.13 (3), p.414
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Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures
Author / Creator:Procopio, Radha ; Gagliardi, Monica ; Talarico, Mariagrazia ; Fortunato, Francesco ; Sammarra, Ilaria ; Procopio, Anna Caterina ; Roncada, Paola ; Malanga, Donatella ; Annesi, Grazia ; Gambardella, Antonio
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-11, Vol.15 (11), p.1407
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The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures
Author / Creator:Klein, Karl Martin ; Pendziwiat, Manuela ; Eilam, Anda ; Gilad, Ronit ; Blatt, Ilan ; Rosenow, Felix ; Kanaan, Moien ; Helbig, Ingo ; Afawi, Zaid
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2017-07, Vol.264 (7), p.1421-1425
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Showing 1 to 20 of 111 results

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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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Genotype phenotype associations across the voltage-gated sodium channel family

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Common variants associated with general and MMR vaccine–related febrile seizures

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IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

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GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics

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Transcriptomic analysis reveals distinct adaptive molecular mechanism in the hippocampal CA3 from rats susceptible or not-susceptible to hyperthermia-induced seizures

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Identification of Reliable Reference Genes for Use in Gene Expression Studies in Rat Febrile Seizure Model

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A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

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Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome

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Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome

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Ascorbic acid mitigates the impact of oxidative stress in a human model of febrile seizure and mesial temporal lobe epilepsy

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TMEM16C is involved in thermoregulation and protects rodent pups from febrile seizures

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

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Transient increase of interleukin-1β after prolonged febrile seizures promotes adult epileptogenesis through long-lasting upregulating endocannabinoid signaling

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Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

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CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures

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GABRG2 Variants Associated with Febrile Seizures

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Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures

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The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

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