The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.

Cephalalgia : an International Journal of Headache
Marjo Eveliina HiekkalaM Kallela

Abstract

Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. Methods The International Classification of Headache Disorders 3rd edition criteria were used to determine clinical characteristics and occurrence of hemiplegic migraine, based on detailed questionnaires, in a Finnish migraine family collection consisting of 9087 subjects. Involvement of CACNA1A, ATP1A2 and SCN1A was studied using whole exome sequencing data from 293 patients with hemiplegic migraine. Results Overall, hemiplegic migraine patients reported clinically more severe headache and aura episodes than non-hemiplegic migraine with aura patients. We identified two mutations, c.1816G>A (p.Ala606Thr) and c.1148G>A (p.Arg383His), in ATP1A2 and one mutation, c.1994C>T (p.Thr665Met) in CACNA1A. Conclusions The results highlight hemiplegic migraine as a clinically and genetically heterogeneous disease. Hemiplegic migraine patients do not form a clearly separate group with distinct symptoms, but rather have an extreme phenotype in the migraine with aura continuum. We have shown that mutations in CACNA...Continue Reading

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Citations

Nov 20, 2018·Expert Opinion on Therapeutic Targets·Innocenzo RaineroElisa Rubino
Feb 15, 2020·Expert Opinion on Therapeutic Targets·Innocenzo RaineroElisa Rubino
Jul 22, 2018·Current Medicinal Chemistry·Innocenzo RaineroElisa Rubino
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Jan 15, 2022·Nature Reviews. Disease Primers·Michel D FerrariDavid W Dodick

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Methods Mentioned

BETA
PCA
exome sequencing
Phenotyping
PCR

Software Mentioned

VEP Effect Predictor
Primer
SIFT
Ensembl
gnomAD
SPSS Statistics
PolyPhen2 ( Polymorphism Phenotyping
BLAST
PolyPhen2
PolyPhen2 Polymorphism Phenotyping

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