title: A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
abstract: BACKGROUND
  Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy.
  
  
  METHODS
  Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+).
  
  
  CONCLUSIONS
  The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
authors.affiliation: Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Costa
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Paola
authors.initials: P
authors.lastname: Sarchielli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tonelli
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.forename: Letizia Maria
authors.initials: LM
authors.lastname: Cupini
authors.forename: Stefano
authors.initials: S
authors.lastname: Caproni
authors.forename: Sabrina
authors.initials: S
authors.lastname: Siliquini
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
authors.forename: Paolo
authors.initials: P
authors.lastname: Calabresi
mesh_terms: D000328:Adult; D000368:Aged; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
keywords:   ATP1A2 gene; FHM2; GEFS+; epilepsy; migraine