+1 Recommend
1 collections
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Síndrome de Dravet Translated title: Dravet Syndrome


      Read this article at

          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.


          Síndrome de Dravet (SD), es una encefalopatía severa epiléptica que comienza en el primer año de la vida con crisis habitualmente desencadenadas por fiebre a las que le sigue una epilepsia farmacorresistente. También conocido como epilepsia mioclónica severa de la infancia (SMEI) o epilepsia polimorfa. Identificado por Charlotte Dravet en 1978 y reconocido como un síndrome. Se presenta el caso de preescolar femenino de 4 años de edad, quien inicia convulsiones tónico- clónicas desde los seis meses de edad, con múltiples episodios convulsivos, con retardo cognitivo y del lenguaje, hemiparesia derecha, alteraciones eletroencefalograficas y farmacoresistencia. Se realizó estudio genético con alteraciones de Novo en el gen SCN1A.

          Translated abstract

          Dravet syndrome (DS) is a severe epileptic encephalopathy that begins in the first year of life with crises usually triggered by fever which is followed by drug-resistant epilepsy. Also By Charlotte Dravet and recognize as an epilepsy syndrome by the International League against Epilepsy in 1985. For female preschool age 4, who starts tonic-clonic seizures from 6 months of age, presented with multiple convulsive seizures, cognitive and language delay, right hemiparesis EEG changes and drug resistance. Genetic study was performed with Novo alterations in gene SCN1A.

          Related collections

          Most cited references30

          • Record: found
          • Abstract: found
          • Article: not found

          Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

          Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or SMEI). To characterise in more detail the mutation spectrum associated with Dravet syndrome. A large series of 333 patients was screened using both direct sequencing and multiplex ligation-dependent probe amplification (MLPA). Non-coding regions of the gene that are usually not investigated were also screened. SCN1A point mutations were identified in 228 patients, 161 of which had not been previously reported. Missense mutations, either (1) altering a highly conserved amino acid of the protein, (2) transforming this conserved residue into a chemically dissimilar amino acid and/or (3) belonging to ion-transport sequences, were the most common mutation type. MLPA analysis of the 105 patients without point mutation detected a heterozygous microrearrangement of SCN1A in 14 additional patients; 8 were private, partial deletions and six corresponded to whole gene deletions, 0.15-2.9 Mb in size, deleting nearby genes. Finally, mutations in exon 5N and in untranslated regions of the SCN1A gene that were conserved during evolution were excluded in the remaining negative patients. These findings widely expand the SCN1A mutation spectrum identified and highlight the importance of screening the coding regions with both direct sequencing and a quantitative method. This mutation spectrum, including whole gene deletions, argues in favour of haploinsufficiency as the main mechanism responsible for Dravet syndrome.
            • Record: found
            • Abstract: found
            • Article: not found

            SCN1A mutations and epilepsy.

            SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA. Genetic defects in the coding sequence lead to generalized epilepsy with febrile seizures plus (GEFS+) and a range of childhood epileptic encephalopathies of varied severity (e.g., SMEI). All published mutations are collated. More than 100 novel mutations are spread throughout the gene with the more debilitating usually de novo. Some clustering of mutations is observed in the C-terminus and the loops between segments 5 and 6 of the first three domains of the protein. Functional studies so far show no consistent relationship between changes to channel properties and clinical phenotype. Of all the known epilepsy genes SCN1A is currently the most clinically relevant, with the largest number of epilepsy related mutations so far characterized.
              • Record: found
              • Abstract: found
              • Article: not found

              A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.

              Dravet syndrome is a severe form of epileptic encephalopathy characterized by early onset epileptic seizures followed by ataxia and cognitive decline. Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was recently described in a patient with Dravet syndrome. To further examine the involvement of homozygous SCN1B mutations in the etiology of Dravet syndrome, we performed mutational analyses on SCN1B in 286 patients with epileptic disorders, including 67 patients with Dravet syndrome who have been negative for SCN1A and SCN2A mutations. In the cohort, we found one additional homozygous mutation (p.Ile106Phe) in a patient with Dravet syndrome. The identified homozygous SCN1B mutations indicate that SCN1B is an etiologic candidate underlying Dravet syndrome.

                Author and article information

                Role: ND
                Role: ND
                Universidad de Carabobo
                December 2015
                : 19
                : 3
                : 27-30
                [1 ] Universidad de Carabobo Venezuela
                [2 ] Centro Policlínico Valencia Venezuela



                SciELO Venezuela

                Self URI (journal page): http://www.scielo.org.ve/scielo.php?script=sci_serial&pid=1316-7138&lng=en
                HEALTH POLICY & SERVICES

                Health & Social care,Public health
                Seizures,Dravet syndrome,epilepsy,Convulsiones,síndrome de Dravet,epilepsia


                Comment on this article