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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Cells - 28 Oct 2020

Sutherland Heidi G, Maksemous Neven, Albury Cassie L, Ibrahim Omar, Smith Robert A, Lea Rod A, Haupt Larisa M, Jenkins Bronwyn, Tsang Benjamin, Griffiths Lyn R

Abstract excerpt

Hemiplegic migraine (HM) is a rare migraine disorder with aura subtype including temporary weakness and visual, sensory, and/or speech symptoms. To date, three main genes-CACNA1A, ATP1A2, and SCN1A-have been found to cause HM. These encode ion channels or transporters, important for regulating neuronal ion balance and synaptic transmission, leading to HM being described as a channelopathy. However, <20% of HM...

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PMID: 33126486
DOI: 10.3390/cells9112368
PMCID: PMC7693486

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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.PMID 33126486Read ↗

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