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Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy
Sato Suzuki-Muromoto1, Rika Kosaki2, Kenjiro Kosaki3
1Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
Objective:
To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment.
Methods:
Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families.
Results:
In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients.
Conclusion:
Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.
Insights
Familial hemiplegic migraine (FHM) linked to PRRT2 mutations often begins in adolescence. Low-dose carbamazepine shows promise for treating FHM, but careful consideration of treatment duration is needed due to spontaneous remission.
Area of Science:
- Neurology
- Genetics
Background:
- Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura.
- Mutations in the PRRT2 gene are a significant cause of FHM.
Observation:
- Clinical characteristics of FHM in three generations of patients with a PRRT2 mutation were investigated.
- Phenotypes were often shared within families, with onset typically in adolescence.
- Five patients experienced spontaneous remission of symptoms.
Findings:
- Low-dose carbamazepine (CBZ) demonstrated efficacy in treating FHM in patients with PRRT2 mutations.
- Treatment response suggests a potential therapeutic option for this genetic migraine disorder.
Implications:
- Low-dose carbamazepine may be an effective preventive treatment for PRRT2-associated FHM.
- The possibility of spontaneous remission necessitates careful consideration of treatment duration.
- Further research on familial cases is crucial for understanding PRRT2 function and establishing standard FHM treatments.
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