Hemiplegic Migraine Associated With PRRT2 Mutations: A Clinical and Genetic Study.
Florence RiantCaroline RoosAgathe RoubertieCécile BarbanceJessica HadjadjStéphane AuvinGuillaume BailleMarion BeltramoneCécile BoulangerAlice CahnFlorina CataEmmanuel CheuretJean-Christophe CuvellierAntoine DefoGenevieve DemarquayAnne DonnetNicolas GaillardEvelyne MassardierNathalie GuySylvie LamoureuxLaurence Le MoignoChristian LucasDiana RatiuSylvain RedonCaroline ReyChristel ThauvinFrançois VialletElisabeth Tournier-LasserveAnne DucrosPublished in: Neurology (2021)
PRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine, and screened in any affected patient, together with the three other main genes. Further studies are needed to understand how the same loss of function PRRT2 mutations can lead to a wide range of neurologic phenotypes including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder and hemiplegic migraine.