Familial hemiplegic migraine (FHM)

Evidence-based neurology checklist on familial hemiplegic migraine (fhm): Genetic types and mutations FHM1: CACNA1 gene FHM2: ATP1A2 gene FHM3: SCN1 gene PRRT2 gene Triggers Clinical features The digiti quinti sign Elicited repetitive daily blindness (ERDB) Complications Differential diagnosis:…

Genetic types and mutations

  • FHM1: CACNA1 gene
  • FHM2: ATP1A2 gene
  • FHM3: SCN1 gene
  • PRRT2 gene

Triggers

Clinical features

The digiti quinti sign

Elicited repetitive daily blindness (ERDB)

Complications

Differential diagnosis: sporadic hemiplegic migraine (SHM)

Treatment

References

  1. Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 2011; 10:457–470.
  2. Vahedi K, Depienne C, Le Fort D, et al. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology 2009; 72: 1178-1183.
  3. Schubert V, Auffenberg E, Biskup S, Jurkat-Rott K, Freilinger T. Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L. Cephalalgia 2018; 38:1503-1508.
  4. Riant F, Roos C, Roubertie A, Barbance C, et al. Hemiplegic migraine associated with PRRT2 variations: a clinical and genetic study. Neurology 2022; 98:e51-e61.
  5. Stam AH, Louter MA, Haan J, et al. A long term follow-up study of 18 patients with sporadic hemiplegic migraine. Cephalalgia 2011; 31:199-205.
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