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Hemiplegic migraine (HM) is a rare migraine subtype characterized by hemiparesis during the attack and is associated with at least 3 genes: CACNA1A, ATP1A2, and SCN1A.1 Recent reports suggested that the proline-rich transmembrane protein PRRT2 gene might be the fourth gene for HM.2 In the vast majority of cases, PRRT2 is associated with paroxysmal kinesigenic dyskinesia, benign familial infantile seizures (BFIS), or infantile convulsion choreoathetosis syndrome. In families with such a “typical PRRT2 phenotype,” HM was reported in a few PRRT2 mutation carriers. Most of these cases also had a “typical PRRT2 phenotype.”2 Vice versa, PRRT2 mutations were found in 5 out of over 200 index cases with HM; 2 of these 5 PRRT2 mutation carriers also had features of “typical PRRT2 phenotypes.”3,4
Footnotes
Author contributions: Dr. Pelzer: acquisition and analysis of clinical/genetic data, drafting/revising the manuscript. Dr. de Vries: analysis of genetic data, revising the manuscript. J.T. Kamphorst: acquisition and analysis of genetic data. L.S. Vijfhuizen: acquisition and analysis of genetic data. Dr. Ferrari: revising the manuscript, overall study supervision. Dr. Haan: revising the manuscript, clinical study supervision. Dr. van den Maagdenberg: revising the manuscript, genetic study supervision. Dr. Terwindt: revising the manuscript, clinical study supervision.
Study funding: Supported by grants of the Netherlands Organization for Scientific Research (NWO) (903-52-291, M.D.F.; VICI 918.56.602, M.D.F.; VIDI 91711319, G.M.T.); the European Community (EC); and the Centre for Medical Systems Biology (CMSB) in the framework of the Netherlands Genomics Initiative (NGI) (M.D.F. and A.M.J.M.v.d.M.). They had no role in the design or conduct of the study.
Disclosure: Dr. Pelzer reports support for conference visits from Menarini and Allergan UK. Dr. de Vries, J.T. Kamphorst, and L.S. Vijfhuizen report no disclosures relevant to the manuscript. Dr. Ferrari reports grants and consultancy or industry support from Medtronic, Menarini, and Merck and independent support from NWO, ZonMW, NIH, European Community, and the Dutch Heart Foundation. Dr. Haan and Dr. van den Maagdenberg report no disclosures relevant to the manuscript. Dr. Terwindt reports grants and consultancy/industry support from Merck and Menarini and independent support from NWO. Go to Neurology.org for full disclosures.
- Received September 7, 2013.
- Accepted in final form March 17, 2014.
- © 2014 American Academy of Neurology
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