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Review
. 2024 Mar 31;15(4):443.
doi: 10.3390/genes15040443.

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches

Mohammed M Alfayyadh  1 , Neven Maksemous  1 , Heidi G Sutherland  1 , Rod A Lea  1 , Lyn R Griffiths  1
Affiliations
Review

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches

Mohammed M Alfayyadh et al. Genes (Basel). .

Abstract

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.

Keywords: bioinformatics; hemiplegic migraine; sequence variants; whole exome sequencing.

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Conflict of interest statement

The authors declare no conflicts of interest.

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The authors disclose receipt of the following financial support for this article’s research, authorship, and/or publication. This work was supported by the Australian National Health and Medical Research Council (NHMRC-APP1122387) (LRG); a Migraine Research Foundation grant (2016), NY, USA (LRG); an Australian International Science Linkages grant (LRG); infrastructure purchased with Australian Government EIF Super Science Funds as part of the Therapeutic Innovation Australia—Queensland Node project (LRG); and a PhD scholarship provided by Queensland University of Technology.

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