title: [Dravet syndrome as a cause of epilepsy  and learning disability].
abstract: BACKGROUND
  Dravet syndrome is a severe, genetic epileptic encephalopathy with seizures starting during the first year of life. We present a review of the genetic and clinical picture along with treatment aspects.
  
  
  METHODS
  This review is based on a non-systematic literature search in PubMed until April 2011 and the personal experiences of the authors.
  
  
  RESULTS
  Dravet syndrome should be suspected in children with febrile hemiconvulsions or tonic-clonic seizures in the first year of life. Non-febrile seizures also occur, and other seizure types gradually appear, e.g. myoclonic jerks, atypical absences or focal seizures. In adulthood the clinical picture is less characteristic. The clinical diagnosis is supported by genetic testing; 70-80% of the patients have mutations in the sodium channel subunit gene SCN1A. Seizure control is difficult to achieve, but valproate, benzodiazepines and stiripentol may cause improvement, whereas sodium channel blockers, such as lamotrigine and carbamazepine may aggravate the tendency towards seizures.
  
  
  CONCLUSIONS
  Dravet syndrome appears to be an under-recognised condition among both children and adults with severe epilepsy and learning disability. Clinical information from the first years of life is essential in making the diagnosis. A correct diagnosis at an early age is essential for appropriate treatment and genetic counselling.
authors.affiliation: Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser, Oslo universitetssykehus, Norway. caroline.lund@oslo-universitetssykehus.no
authors.forename: Caroline
authors.initials: C
authors.lastname: Lund
authors.forename: Anna
authors.initials: A
authors.lastname: Bremer
authors.forename: Morten I
authors.initials: MI
authors.lastname: Lossius
authors.forename: Kaja Kristine
authors.initials: KK
authors.lastname: Selmer
authors.forename: Eylert
authors.initials: E
authors.lastname: Brodtkorb
authors.forename: Karl O
authors.initials: KO
authors.lastname: Nakken
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D009154:Mutation; D011597:Psychomotor Performance; D003294:Seizures, Febrile / Q000175:diagnosis; D013577:Syndrome
chemical_list: D000927:Anticonvulsants