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Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study
Florence Riant1, Caroline Roos2, Agathe Roubertie2
1From the Service de Génétique Moléculaire (F.R., C. Barbance, J.H., E.T.-L.), Hôpital Saint-Louis, Assistance Publique des Hôpitaux de Paris; INSERM UMR-S1141 (F.R., E.T.-L.), Université Paris; Emergency Headache Centre (C. Roos), Lariboisière Hospital, Paris; INM (A.R.), Univ Montpellier, INSERM, CHU Montpellier, Département de Neuropédiatrie; Service de Neurologie Pédiatrique (S.A.), Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris; Service de Neurologie et Pathologie du Mouvement (G.B.), CHRU de Lille; Pain Department (M.B., A. Donnet, S.R.), FHU INNOVPAIN, Hôpital La Timone, Marseille; Equipe Douleur et Soins Palliatifs Pédiatriques (C. Boulanger), Hôpital des Enfants, CHU Toulouse; Service de Neuropédiatrie (A.C.), Centre Hospitalier d'Arras; Service de Pédiatrie-Néonatologie du CH Remiremont (F.C.); Service de Neurologie Pédiatrique (E.C.), Hôpital des Enfants, CHU de Toulouse; Service de Neuropédiatrie (J.-C.C.), Hôpital Roger-Salengro, CHRU de Lille; Service de Neuropédiatrie (A. Defo), CH de Cayenne, Guyane; Department of Neurology (G.D.), Hospices Civils de Lyon; Lyon Neuroscience Research Center (CRNL) (G.D.), Brain Dynamics and Cognition Team (Dycog), INSERM U1028, CNRS UMR5292; Neurology Department (N. Gaillard, A. Ducros), Montpellier University Hospital; Department of Neurology (E.M.), Rouen University Hospital; Service de Neurologie (N. Guy), CHU Clermont-Ferrand; Service de Pédiatrie (S.L.), Centre Hospitalier d'Avignon; Service de Pédiatrie et Unité d'Urgence Pédiatrique (L.L.M.), Centre Hospitalier de Cornouaille, Quimper; Centre d'Evaluation et de Traitement de la Douleur dans le service de Neurochirurgie (C.L.), CHU de Lille; Service de Neurologie Centre Hospitalier de Narbonne (C.R.); Service de Neurologie Vasculaire (C. Rey), CHU Timone, Marseille; Centre de Génétique et Centre de Référence des Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est (C.T.), Centre Hospitalier Universitaire Dijon; Département de Neurologie (F.V.), Centre Hospitalier Intercommunal d'Aix-Pertuis, Aix-en-Provence; and Charles Coulomb Laboratory (A. Ducros), UMR 5221 CNRS-UM, Montpellier University, France florence.riant@aphp.fr.
The proline-rich transmembrane protein 2 (PRRT2) gene is identified as the fourth major gene linked to familial hemiplegic migraine. Screening PRRT2 variants is crucial for diagnosing hemiplegic migraine and related neurological disorders.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Familial hemiplegic migraine (FHM) is a subtype of migraine with aura, characterized by temporary neurological deficits.
- Previous studies have implicated genes like CACNA1A, ATP1A2, and SCN1A in FHM, but a significant portion of cases remain genetically unexplained.
- PRRT2 variants have been anecdotally reported in some hemiplegic migraine patients, suggesting a potential role.
Purpose of the Study:
- To investigate the role of the PRRT2 gene in a large cohort of patients diagnosed with hemiplegic migraine.
- To determine the frequency of PRRT2 variations in hemiplegic migraine and characterize the associated clinical phenotypes.
Main Methods:
- Genetic analysis of the PRRT2 gene in 860 probands with hemiplegic migraine.
- Genotyping of affected relatives to confirm segregation of PRRT2 variations with the disease.
- Screening of PRRT2 alongside CACNA1A, ATP1A2, and SCN1A in a subset of patients.
Main Results:
- PRRT2 variations were identified in 30 out of 860 hemiplegic migraine probands (3.5%).
- Among 49 individuals with PRRT2 variations, 26 presented with pure hemiplegic migraine, while 16 had associated neurological symptoms like epilepsy or learning disabilities.
- PRRT2 variations were found in 12% of patients negative for CACNA1A, ATP1A2, and SCN1A, and 17% of those screened for all four genes.
Conclusions:
- PRRT2 is confirmed as the fourth major autosomal dominant gene associated with hemiplegic migraine.
- PRRT2 should be included in genetic screening panels for hemiplegic migraine and related neurological disorders.
- Further research is needed to elucidate the mechanism by which PRRT2 loss-of-function variants lead to diverse neurological phenotypes.
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