title: Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.
abstract: BACKGROUND
  SCN1A is the most relevant gene in epilepsy. Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.
  In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation. In the current study, we report a novel FHM3 kindred from the same village. The first family exhibited the co-occurrence of FHM and epilepsy. No case of epilepsy was observed in the new kindred. An L263V mutation was found in all patients, and the haplotype analysis supports a unique mutational event.
  
  
  CONCLUSIONS
  Despite its bioelectric activity, the SCN1A L263V mutation most likely requires a combination of several endogenous or environmental induction stimuli to attain an epileptogenic threshold.
authors.affiliation: Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal josebarros.neuro@hgsa.min-saude.pt.
authors.forename: José
authors.initials: J
authors.lastname: Barros
authors.affiliation: Centro Hospitalar de Entre Douro e Vouga (CHEDV), Santa Maria da Feira, Portugal.
authors.forename: Augusto
authors.initials: A
authors.lastname: Ferreira
authors.affiliation: Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: Ana F
authors.initials: AF
authors.lastname: Brandão
authors.affiliation: Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: Carolina
authors.initials: C
authors.lastname: Lemos
authors.affiliation: Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal.
authors.forename: Fernando
authors.initials: F
authors.lastname: Correia
authors.affiliation: Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Damásio
authors.affiliation: Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal.
authors.forename: Assunção
authors.initials: A
authors.lastname: Tuna
authors.affiliation: Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.affiliation: Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Coutinho
authors.affiliation: Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Alonso
authors.affiliation: Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.
authors.forename: José
authors.initials: J
authors.lastname: Pereira-Monteiro
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004827:Epilepsy / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000150:complications / Q000235:genetics*; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D011174:Portugal; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords:    SCN1A gene; Hemiplegic migraine; L263V; epilepsy; sodium channel