title: Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.
abstract: Hemiplegic migraine is a rare form of migraine characterized by periodic attacks of migraine with neurologic aura and transient hemiplegia. There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical response and prevention of further attacks.
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Sara
authors.initials: S
authors.lastname: De Sanctis
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Gaetano Salvatore
authors.initials: GS
authors.lastname: Grieco
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Luciana
authors.initials: L
authors.lastname: Breda
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Manuela
authors.initials: M
authors.lastname: Nozzi
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Marianna
authors.initials: M
authors.lastname: Del Torto
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.affiliation: From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D005444:Flunarizine / Q000627:therapeutic use; D006429:Hemiplegia / Q000235:genetics*; D006801:Humans; D020325:Migraine with Aura / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase; D005444:Flunarizine