PURPOSE: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epileptic seizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine. METHODS: We selected 20 families with epilepsy and migraine and performed mutation analysis of ATP1A2 in the probands by direct sequencing of all exons and splice-site junctions. RESULTS: Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine with and without visual aura. In the two families together, six mutation carriers had the combination of epilepsy and migraine, two had only epilepsy, and six had only migraine. DISCUSSION: This study shows that a history of migraine and a family history of both epilepsy and migraine should be obtained in all patients presenting with epilepsy in the epilepsy clinic. It may be worthwhile to screen patients with a combination of epilepsy and migraine and a positive family history of either migraine or epilepsy for mutations in the ATP1A2 gene.
PURPOSE: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epilepticseizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine. METHODS: We selected 20 families with epilepsy and migraine and performed mutation analysis of ATP1A2 in the probands by direct sequencing of all exons and splice-site junctions. RESULTS: Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine with and without visual aura. In the two families together, six mutation carriers had the combination of epilepsy and migraine, two had only epilepsy, and six had only migraine. DISCUSSION: This study shows that a history of migraine and a family history of both epilepsy and migraine should be obtained in all patients presenting with epilepsy in the epilepsy clinic. It may be worthwhile to screen patients with a combination of epilepsy and migraine and a positive family history of either migraine or epilepsy for mutations in the ATP1A2 gene.
Authors: Mads S Toustrup-Jensen; Anja P Einholm; Vivien R Schack; Hang N Nielsen; Rikke Holm; María-Jesús Sobrido; Jens P Andersen; Torben Clausen; Bente Vilsen Journal: J Biol Chem Date: 2013-12-19 Impact factor: 5.157
Authors: Robert A Bradley; Jack Shireman; Caya McFalls; Jeea Choi; Scott G Canfield; Yi Dong; Katie Liu; Brianne Lisota; Jeffery R Jones; Andrew Petersen; Anita Bhattacharyya; Sean P Palecek; Eric V Shusta; Christina Kendziorski; Su-Chun Zhang Journal: Development Date: 2019-07-08 Impact factor: 6.868
Authors: Katharina Eikermann-Haerter; Ergin Dileköz; Chiho Kudo; Sean I Savitz; Christian Waeber; Michael J Baum; Michel D Ferrari; Arn M J M van den Maagdenberg; Michael A Moskowitz; Cenk Ayata Journal: J Clin Invest Date: 2008-12-22 Impact factor: 14.808
Authors: Karl P Schlingmann; Sascha Bandulik; Cherry Mammen; Maja Tarailo-Graovac; Rikke Holm; Matthias Baumann; Jens König; Jessica J Y Lee; Britt Drögemöller; Katrin Imminger; Bodo B Beck; Janine Altmüller; Holger Thiele; Siegfried Waldegger; William Van't Hoff; Robert Kleta; Richard Warth; Clara D M van Karnebeek; Bente Vilsen; Detlef Bockenhauer; Martin Konrad Journal: Am J Hum Genet Date: 2018-11-01 Impact factor: 11.025