RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice | Zendy

Boukje de Vries | Zendy; Else Eising | Zendy; Ludo A. M. Broos | Zendy; Stephany C Koelewijn | Zendy; Boyan Todorov | Zendy; Rune R. Frants | Zendy; Judith M. Boer | Zendy; Michel D. Ferrari | Zendy; Peter A.C. ‘t Hoen | Zendy; Arn M. J. M. van den Maagdenberg | Zendy

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RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice

Author(s) -

Boukje de Vries,

Else Eising,

Ludo A. M. Broos,

Stephany C Koelewijn,

Boyan Todorov,

Rune R. Frants,

Judith M. Boer,

Michel D. Ferrari,

Peter A.C. ‘t Hoen,

Arn M. J. M. van den Maagdenberg

Publication year - 2013

Publication title -

cephalalgia

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.57

H-Index - 125

eISSN - 1468-2982

pISSN - 0333-1024

DOI - 10.1177/0333102413502736

Subject(s) - familial hemiplegic migraine , cerebellum , ataxia , migraine with aura , cerebellar ataxia , missense mutation , migraine , wild type , cerebellar cortex , biology , aura , mutant , medicine , phenotype , endocrinology , neuroscience , genetics , gene

Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiplegic migraine, cerebellar ataxia, seizures, and mild head trauma-induced brain edema. Transgenic knock-in (KI) migraine mouse models were generated that carried either the FHM1 R192Q or the S218L mutation and were shown to exhibit increased CaV2.1 channel activity. Here we investigated their cerebellar and caudal cortical transcriptome.

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