Molecular genetics of migraine

  title={Molecular genetics of migraine},
  author={Boukje de Vries and Rune R. Frants and Michel Dominique Ferrari and Arn M. J. M. van den Maagdenberg},
  journal={Human Genetics},
Migraine is an episodic neurovascular disorder that is clinically divided into two main subtypes that are based on the absence or presence of an aura: migraine without aura (MO) and migraine with aura (MA). Current molecular genetic insight into the pathophysiology of migraine predominantly comes from studies of a rare monogenic subtype of migraine with aura called familial hemiplegic migraine (FHM). Three FHM genes have been identified, which all encode ion transporters, suggesting that… 

Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders

With respect to common polygenic migraine, genome‐wide association studies have now identified single nucleotide polymorphisms at 38 loci significantly associated with migraine risk, suggesting that both neuronal and vascular pathways also contribute to the pathophysiology of common migraine.

Genetics of Headache

The current status of migraine genetics is summarized, with a special focus on FHM and the most recent findings in GWAS.

Molecular factors in migraine

The understanding of the molecular mechanisms of migraine, including genotype-phenotype correlations, may contribute to finding markers important for the diagnosis and treatment of this disease.

Advances in genetics of migraine

A comprehensive knowledge of the genetic factors underpinning migraine will lead to improved understanding of molecular mechanisms and pathogenesis, to enable better diagnosis and treatments for migraine sufferers.

From migraine genes to mechanisms

How novel experimental approaches for the identification and functional characterization of migraine genes, such as next-generation sequencing, induced pluripotent stem cell, and optogenetic technologies will further the understanding of the molecular pathways involved in migraine pathogenesis is discussed.

Mendelian and complex causes of migraine: Bridging the gap

The dominant view is that the primary determinant of the CADASIL disease involves novel pathogenic roles for mutant Notch3 receptor rather than compromised NOTCH3 function, and this is in line with heritability studies suggesting that MA and MO may have at least partly distinct genetic backgrounds.

Clinical and Genetic Features of Familial Hemiplegic Migraine

The recent beta version of the third edition of the International Classification of Headache Disorders contains revised diagnostic criteria for FHM, which include the above-three genetic factors, which are responsible for most of the representative types of FHM.

Familial hemiplegic migraine: A model for the genetic studies of migraine

  • A. Ducros
  • Biology, Medicine
    Cephalalgia : an international journal of headache
  • 2014
The identification of two novel SCN1A FHM3 mutations in two families with pure FHM is reported, important for clinicians managing patients with FHM, and should encourage geneticists to consider or reconsider FHM as one of the major targets in the continuing quest for migraine genes.



Familial hemiplegic migraine.

Deciphering migraine mechanisms: Clues from familial hemiplegic migraine genotypes

Human studies strongly implicating cortical spreading depression as the generator of migraine aura, together with evidence linking astrocytes and blood vessels to brain metabolism and synaptic activity, provide intriguing possibilities relevant to FHM, and perhaps by extrapolation, to more common forms of migraine headache.

A Gene for a New Monogenic Neurovascular Migraine Syndrome: A Next Step in Unravelling Molecular Pathways for Migraine?

Migraine is a multifactorial disorder in which both multiple genetic and nongenetic factors are contributing to the disease risk and the molecular basis will undoubtedly help to elucidate the underlying mechanisms for the migraine trigger threshold.

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

It is proposed that rare variants in ATP1A2 are involved in the susceptibility to common forms of migraine, because of the absence of alterations in controls, the particular pattern of segregation in both families, the high conservation of mutated residues in Na+/K+‐ATPases, and the functional effect of C515Y.

The primary headaches: genetics, epigenetics and a behavioural genetic model

  • P. Montagna
  • Psychology, Medicine
    The Journal of Headache and Pain
  • 2008
A behavioural model is proposed, whereby the primary headaches are construed as behaviours, not symptoms, evolutionarily conserved for their adaptive value and engendered out of a genetic repertoire by a network of pattern generators present in the brain and signalling homeostatic imbalance.

Recent advances in understanding migraine mechanisms, molecules and therapeutics.

  • P. Goadsby
  • Biology, Psychology
    Trends in molecular medicine
  • 2007

Genetics of migraine: an update with special attention to genetic comorbidity

Many novel ATP1A2 mutations were identified in patients with familial and sporadic hemiplegic migraine, and a second FHM3 mutation definitely established the epilepsy SCN1A gene as a migraine gene.

Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura

Familial clustering and sibpair analysis showed that affected sibs shared the same marker allele more frequently than expected by chance, suggesting the involvement of a gene on 19p13 in the etiology of the common forms of migraine.

Familial hemiplegic migraine