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21por Vecchia, Dania, Tottene, Angelita, van den Maagdenberg, Arn M.J.M., Pietrobon, Daniela“…Familial hemiplegic migraine type 1 (FHM1), a monogenic subtype of migraine with aura, is caused by gain-of-function mutations in Ca(V)2.1 (P/Q-type) calcium channels. …”
Publicado 2014
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22por Leo, Loredana, Gherardini, Lisa, Barone, Virginia, De Fusco, Maurizio, Pietrobon, Daniela, Pizzorusso, Tommaso, Casari, Giorgio“…We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. …”
Publicado 2011
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23por Bruun, Marie, Hjermind, Lena Elisabeth, Thomsen, Carsten, Danielsen, Else, Thomsen, Lise Lykke, Pinborg, Lars Hageman, Khabbazbavani, Nastaran, Nielsen, Joergen Erik“…It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. …”
Publicado 2015
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24por Fan, Chunxiang, Wolking, Stefan, Lehmann-Horn, Frank, Hedrich, Ulrike BS, Freilinger, Tobias, Lerche, Holger, Borck, Guntram, Kubisch, Christian, Jurkat-Rott, Karin“…INTRODUCTION: Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. …”
Publicado 2016
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25“…Both processes are essential for proper brain activity, and autosomal dominantly mutations in the ATP1A2 gene cause the neurological disorder Familial hemiplegic migraine type 2 (FHM2). FHM2 is a severe subtype of migraine with aura including temporary numbness or weakness, and affecting only one side of the body. …”
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26“…BACKGROUND: Familial hemiplegic migraine (FHM) is a group of genetic migraine, associated with hemiparesis and aura. …”
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27por Li, Guangming, Li, Mengying, Peng, Shuzhen, Wang, Ying, Ran, Li, Chen, Xuyu, Zhang, Ling, Zhu, Sirong, Chen, Qi, Wang, Wenjing, Xu, Yang, Zhang, Yubin, Tan, Xiaodong“…CONCLUSIONS: We found that multiple factors, including gender, household income, and body mass index, were correlated with latent FHM during home quarantine. We conclude that FHM can meaningfully improve individuals’ health. …”
Publicado 2022
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28por Montagna, Pasquale“…However, a review of the genetic studies suggests that the FHM genes are not involved in the typical migraines and that FHM should be considered as a syndromic migraine rather than a subtype of MA. …”
Publicado 2008
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29“…We present a Norwegian family with familial hemiplegic migraine (FHM) with possibly four affected in three generations. …”
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30“…RATIONALE: Familial hemiplegic migraine (FHM) is a rare, autosomal dominant migraine with aura. …”
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31por Montagna, Pasquale“…FHM is allelic with episodic ataxia type 2 and spinocerebellar ataxia type 6. …”
Publicado 2001
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32por Bøttger, Pernille, Glerup, Simon, Gesslein, Bodil, Illarionova, Nina B., Isaksen, Toke J., Heuck, Anders, Clausen, Bettina H., Füchtbauer, Ernst-Martin, Gramsbergen, Jan B., Gunnarson, Eli, Aperia, Anita, Lauritzen, Martin, Lambertsen, Kate L., Nissen, Poul, Lykke-Hartmann, Karin“…We show that knock-in mice heterozygous for the FHM2-associated G301R-mutation (α(2)(+/G301R)) phenocopy several FHM2-relevant disease traits e.g., by mimicking mood depression and OCD. …”
Publicado 2016
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33“…INTRODUCTION: Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). …”
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34por Dehghani, Anisa, Schenke, Maarten, van Heiningen, Sandra H., Karatas, Hulya, Tolner, Else A., van den Maagdenberg, Arn M. J. M.“…Nuclear HMGB1 release in the cortex of FHM1 mutant mice, at 30 min after CSD, was increased bilaterally in both WT and FHM1 mutant mice, albeit that contralateral release was more pronounced in the mutant mice. …”
Publicado 2023
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35por Toldo, Irene, Brunello, Francesco, Morao, Veronica, Perissinotto, Egle, Valeriani, Massimiliano, Pruna, Dario, Tozzi, Elisabetta, Moscano, Filomena, Farello, Giovanni, Frusciante, Roberto, Carotenuto, Marco, Lisotto, Carlo, Ruffatti, Silvia, Maggioni, Ferdinando, Termine, Cristiano, Di Rosa, Gabriella, Nosadini, Margherita, Sartori, Stefano, Battistella, Pier Antonio“…SHM cases experienced more prolonged attacks than FHM cases, with significantly longer duration of both motor aura and of total HM attack. …”
Publicado 2019
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36por Romozzi, Marina, Primiano, Guido, Rollo, Eleonora, Travaglini, Lorena, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello“…Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified into 3 subtypes, based on the gene involved (CACNA1A in FHM1, ATP1A2 in FHM2 and SCN1A in FHM3). …”
Publicado 2021
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37“…Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α(2) isoform of the Na(+),K(+)-ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. …”
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38por Dhifallah, Sandra, Lancaster, Eric, Merrill, Shana, Leroudier, Nathalie, Mantegazza, Massimo, Cestèle, Sandrine“…Here, we report the characterization of the L1670W SCN1A mutation that has been previously identified in a Chinese family with pure FHM-3, and that we have identified also in a Caucasian American family with pure FHM-3. …”
Publicado 2018
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39por Meneghetti, Nicolò, Cerri, Chiara, Vannini, Eleonora, Tantillo, Elena, Tottene, Angelita, Pietrobon, Daniela, Caleo, Matteo, Mazzoni, Alberto“…Additionally, we reproduced in silico the obtained experimental results with a novel spiking neurons network model of mouse V1, by implementing in the model both the synaptic alterations characterizing the FHM1 genetic mouse model adopted. RESULTS: FHM1 mice displayed similar amplitude but slower temporal evolution of visual evoked potentials. …”
Publicado 2022
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40“…The ATP1A2 coding α2 subunit of Na,K‐ATPase, which is predominantly located in astrocytes, is a causative gene of familial hemiplegic migraine type 2 (FHM2). FHM2 model mice (Atp1a2(tmCKwk/+)) are susceptible to cortical spreading depression (CSD), which is profoundly related to migraine aura and headache. …”
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