GENOTIPO Y RESPUESTA FARMACOLÓGICA EN LAS ENCEFALOPATÍAS EPILÉPTICAS EPILÉPTICAS INFANTILES Y EN EL SÍNDROME STXBP1.
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2021-02-16
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[ES]Las encefalopatías epilépticas infantiles tempranas son un conjunto de encefalopatías epilépticas graves asociadas
con la edad, caracterizadas por presentar epilepsia en las primeras semanas o meses de vida, espasmos tónicos y un
patrón de brote-supresión en el electroencefalograma. Dentro de este grupo encontramos al síndrome STXBP1,
cuyas anomalías fenotípicas principales son la discapacidad intelectual, la epilepsia y trastornos del movimiento. Hoy
día, estos síndromes no tienen cura y su tratamiento se centra en paliar los síntomas. El objetivo de este trabajo es
establecer una relación entre el genotipo y la respuesta farmacológica de las personas con EIEE y en concreto, del
síndrome STXBP1, a fin de poder ofrecer un tratamiento personalizado. Los resultados obtenidos muestran que los
fármacos más empleados en el tratamiento de las EIEE son los antiepilépticos, en concreto los de primera
generación, además este estudio evidencia la falta de información actual sobre estos síndromes.
[EN]Early childhood epileptic encephalopathies are a group of severe epileptic encephalopathies associated with age, characterized by presenting epilepsy in the first weeks or months of life, tonic spasms and a suppression-burst pattern on the electroencephalogram. Within this group we find the STXBP1 syndrome, whose main phenotypic abnormalities are intellectual disability, epilepsy, and movement disorders. Today, these syndromes have no cure and their treatment focuses on alleviating symptoms. The objective of this work is to establish a relationship between the genotype and the pharmacological response of people with EIEE and specifically, of the STXBP1 syndrome, in order to be able to offer personalized treatment. The results obtained show that the drugs most used in the treatment of EIEE are antiepileptics, specifically the first generation, in addition this study evidences the lack of current information on these syndromes.
[EN]Early childhood epileptic encephalopathies are a group of severe epileptic encephalopathies associated with age, characterized by presenting epilepsy in the first weeks or months of life, tonic spasms and a suppression-burst pattern on the electroencephalogram. Within this group we find the STXBP1 syndrome, whose main phenotypic abnormalities are intellectual disability, epilepsy, and movement disorders. Today, these syndromes have no cure and their treatment focuses on alleviating symptoms. The objective of this work is to establish a relationship between the genotype and the pharmacological response of people with EIEE and specifically, of the STXBP1 syndrome, in order to be able to offer personalized treatment. The results obtained show that the drugs most used in the treatment of EIEE are antiepileptics, specifically the first generation, in addition this study evidences the lack of current information on these syndromes.