Mostrando 1 - 20 Resultados de 129 Para Buscar '"FHM"', tiempo de consulta: 0.19s Limitar resultados
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    “…Here we show, for the first time, spontaneous cortical spreading depolarization (CSD) events – the electrophysiological correlate of the migraine aura – in animals by using the first generated familial hemiplegic migraine type 3 (FHM3) transgenic mouse model. The mutant mice express L263V‐mutated α1 subunits in voltage‐gated Na(V)1.1 sodium channels (Scn1a (L263V)). …”
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    “…The C. elegans eat-6 gene encodes a Na(+), K(+)-ATPase α subunit and is a homolog of the familial hemiplegic migraine candidate gene FHM2. Migraine is the most common neurological disorder linked to serotonergic dysfunction. …”
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    “…Interestingly, α(2)(+/G301R) mice indeed showed an increased susceptibility to both CSD and epileptiform activity, closely replicating symptoms in FHM2 patients harboring the G301R and other FHM2-causing mutations. …”
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    “…The familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in SCN1A. Here, we report a rare case of an SCN1A mutation leading to FHM3 in a Chinese family. …”
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    “…A knock-in (KI) mouse model of FHM-1 expressing the R192Q missense mutation of the Cacna1a gene coding for the α1 subunit of Ca(V)2.1 channels shows, at the level of the trigeminal ganglion, selective functional up-regulation of ATP -gated P2X3 receptors of sensory neurons that convey nociceptive signals to the brainstem. …”
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    “…OBJECTIVE: Familial hemiplegic migraine (FHM) is an autosomal dominantly inherited subtype of migraine with aura, characterized by transient neurological signs and symptoms. …”
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  16. 16
    por Roccella, Michele
    Publicado 2003
    “…Familial hemiplegic migraine (FHM) is a rare autosomal dominant-type migraine with aura. …”
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  17. 17
    por Pusch, Michael, Gavazzo, Paola
    Publicado 2022
    “…Familial hemiplegic migraines (FHM) are monogenic forms of severe migraine, caused by mutations in genes encoding various neuronal and/or astrocytic ion transporting proteins. …”
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    “…BACKGROUND: Mutations in ATP1A2, the gene encoding the α2 subunit of Na(+)/K(+)-ATPase, are the main cause of familial hemiplegic migraine type 2 (FHM2). The clinical presentation of FHM2 with mutations in the same gene varies from pure FHM to severe forms with epilepsy and intellectual disability, but the correlation of these symptoms with different ATP1A2 mutations is still unclear. …”
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    “…A subtype of migraine with aura (familial hemiplegic migraine type 2: FHM2) is caused by loss‐of‐function mutations in α(2) Na(+),K(+) ATPase (α(2) NKA), an isoform almost exclusively expressed in astrocytes in adult brain. …”
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