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Investigating Migraine-Like Behavior Using Light Aversion in Mice
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Published on: August 11, 2021

Migraine genetics: Part II.

Stephen D Silberstein1, David W Dodick

  • 1Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

Headache
|August 8, 2013
PubMed
Summary
This summary is machine-generated.

Familial hemiplegic migraine, a rare subtype, is highly heritable. Genetic studies identified mutations in CACNA1A, ATP1A2, and SCN1A genes, and TWIK-related spinal cord potassium channel (KCNK18) is implicated in migraine.

Keywords:
geneticsgenome-wide association studyhemiplegic migrainemigraine

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Last Updated: May 9, 2026

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Published on: June 2, 2014

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Migraine is a heritable neurological disorder.
  • Familial hemiplegic migraine (FHM) is a rare subtype with known genetic links.
  • Genome-wide association studies (GWAS) reveal non-coding variants in regulatory DNA associated with migraine.

Purpose of the Study:

  • To review identified genes associated with familial hemiplegic migraine (FHM).
  • To explore the role of non-coding variants and specific ion channels in migraine pathogenesis.
  • To investigate the involvement of the KCNK18 gene in migraine.

Main Methods:

  • Genetic analysis of families with FHM.
  • Gene mapping and mutation identification (CACNA1A, ATP1A2, SCN1A).
  • Screening of the KCNK18 gene in migraine patients.

Main Results:

  • Identified CACNA1A, ATP1A2 (FHM2), and SCN1A (FHM3) as FHM-associated genes.
  • Demonstrated mutations in ATP1A2 involve the Na/K pump and SCN1A involve voltage-gated Na+ channels.
  • GWAS identified regulatory DNA variants linked to migraine.
  • Suggests a role for the two-pore domain potassium channel (TWIK-related spinal cord potassium channel) in migraine via KCNK18.

Conclusions:

  • Multiple genes (CACNA1A, ATP1A2, SCN1A) are implicated in familial hemiplegic migraine.
  • Non-coding regulatory variants and ion channels like KCNK18 are potential contributors to migraine susceptibility.
  • Further research into these genetic factors is crucial for understanding migraine mechanisms.