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Genes (Basel) ; 15(4)2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38674378

RESUMO

Migraine is a severe, debilitating neurovascular disorder. Hemiplegic migraine (HM) is a rare and debilitating neurological condition with a strong genetic basis. Sequencing technologies have improved the diagnosis and our understanding of the molecular pathophysiology of HM. Linkage analysis and sequencing studies in HM families have identified pathogenic variants in ion channels and related genes, including CACNA1A, ATP1A2, and SCN1A, that cause HM. However, approximately 75% of HM patients are negative for these mutations, indicating there are other genes involved in disease causation. In this review, we explored our current understanding of the genetics of HM. The evidence presented herein summarises the current knowledge of the genetics of HM, which can be expanded further to explain the remaining heritability of this debilitating condition. Innovative bioinformatics and computational strategies to cover the entire genetic spectrum of HM are also discussed in this review.


Assuntos
Enxaqueca com Aura , Humanos , Enxaqueca com Aura/genética , Mutação , Predisposição Genética para Doença , Canal de Sódio Disparado por Voltagem NAV1.1/genética , ATPase Trocadora de Sódio-Potássio/genética , Ligação Genética , Canais de Cálcio/genética
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