title: Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.
abstract: OBJECTIVE
  Mutations of the alpha1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals.
  
  
  METHODS
  We studied two sisters with SMEI and their father with febrile seizures.
  
  
  RESULTS
  SCN1A screening revealed a splice-site mutation in both sisters. The mutation was inherited from their father in whom, however, a mosaicism was found, with 37% of ectodermal derivative cells carrying the mutation.
  
  
  CONCLUSIONS
  In this family, a SCN1A mosaic mutation correlated with the milder phenotype, whereas the full heterozygous mutation caused SMEI. The possibility of mosaic mutations must, therefore, also be taken into account for genetic counseling and determining the recurrence risk in patients with SMEI.
authors.affiliation: Epilepsy, Neurophysiology and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Marini
authors.forename: Davide
authors.initials: D
authors.lastname: Mei
authors.forename: J
authors.initials: J
authors.lastname: Helen Cross
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D053503:Epithelial Sodium Channels / Q000235:genetics*; D005190:Family; D005220:Fathers; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D035781:Siblings
chemical_list: D053503:Epithelial Sodium Channels; C507045:SCNN1A protein, human