ANÁLISIS DE LA RELACIÓN ENTRE GENOTIPO Y FENOTIPO EN LA ENCEFALOPATÍA EPILÉPTICA INFANTIL STXBP1
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2021-02-16
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[ES]La encefalopatía epiléptica infantil temprana tipo 4, también conocida como Síndrome STXBP1, está considerada una epilepsia grave
de la infancia caracterizada por presentar convulsiones epilépticas frecuentes asociadas con un retraso o regresión del
desarrollo. El gen STXBP1 está implicado en el proceso de liberación de neurotransmisores por parte de las vesículas sinápticas
y codifica la proteína de unión a sintaxina 1. El objetivo de este trabajo es contribuir al estudio de la relación entre la STXBP1-E
sindrómica y la STXBP1-E molecular y, además, estudiar las diferentes comorbilidades que se presentan en pacientes con
STXBP1. Para ello, se realiza un abordaje desde una perspectiva de Biomedicina de Sistemas y presentamos una primera
caracterización de la comorbidad molecular en la EIEE4. Los resultados obtenidos muestran una amplia variabilidad entre
genotipos y fenotipos, sugiriendo que pueden existir otros procesos que están ejerciendo un papel en esta patología y que aún
no se conocen.
[EN]Early childhood epileptic encephalopathy type 4, also known as STXBP1 syndrome, is affected by severe childhood epilepsy characterized by frequent epileptic seizures related to developmental delay or regression. The STXBP1 gene is involved in the process of neurotransmitter release by synaptic vesicles and encodes syntaxin 1 binding protein. The aim of this work is to contribute to the study of the relationship between syndromic STXBP1-E and STXBP1- E molecular and, in addition, study the different comorbidities that occur in patients with STXBP1. For this, an approach from a Systems Biomedicine perspective is performed and we present a first characterization of the molecular comorbidity in the EIEE4. The results obtained show a wide variability between genotypes and phenotypes, suggesting that there may be other processes that are playing a role in this pathology and that are not yet found.
[EN]Early childhood epileptic encephalopathy type 4, also known as STXBP1 syndrome, is affected by severe childhood epilepsy characterized by frequent epileptic seizures related to developmental delay or regression. The STXBP1 gene is involved in the process of neurotransmitter release by synaptic vesicles and encodes syntaxin 1 binding protein. The aim of this work is to contribute to the study of the relationship between syndromic STXBP1-E and STXBP1- E molecular and, in addition, study the different comorbidities that occur in patients with STXBP1. For this, an approach from a Systems Biomedicine perspective is performed and we present a first characterization of the molecular comorbidity in the EIEE4. The results obtained show a wide variability between genotypes and phenotypes, suggesting that there may be other processes that are playing a role in this pathology and that are not yet found.