Autosomal dominant mutations of KCNQ2 gene cause two epileptic disorders: Benign Familial Infantile Epilepsy (BFIE) and Early Onset Epileptic Encephalopathy (EOEE). Identifying the best reported therapy for these patients is the aim of this systematic Methods: we searched on Pubmed using the search terms “KCNQ2” AND “therapy” and “KCNQ2” AND “treatment”; we found 304 papers, of these, 29 met our criteria. We selected the data of 194 patients. All 29 papers were retrospective studies. Results: 104 patients were classified as EOEE, 90 as BFIE. After starting the treatment, 95% of BFIE became seizure-free while only in 73% of those with EOEE the seizures stopped.. Phenobarbital and sodium channel blockers were the most used treatment in BFIE. Most of the EOEE patients needed polytherapy and in the great majority, their outcome was severely affected (77%). Missense mutations were discovered in 96% of EOEE patients; they were prevalent but with a lower percentage also in BFIE ones (50%), followed by large deletion (16%), truncating (16%), splice donor site (10%) and frameshift (7%). Conclusions: Phenobarbital or Carbamazepine are reported to be the most effectivedrugs for child who have “benign” course, instead polytherapy is often necessary in EOEE patients, even if did not improve their neurological outcome In EOEE patients, mutations were located most frequently in S4 and S6 Helix and this could be an important information for developing new specific drugs.
RESUMENEl presente trabajo analiza la evolución del señorío eclesiástico en el largo plazo, para sumar al conocimiento de las formas señoriales de la Extremadura leonesa. Consideramos específicamente el caso del cabildo catedralicio salmantino entre los siglos XII y XV. Buscamos demostrar que no poseyó idéntica estructura durante todo el período y que sus transformaciones se explican por una compleja conjunción de variables. Dichas transformaciones incidieron sobre las estructuras sociales del agro, en especial sobre el desarrollo de procesos de diferenciación social campesina. Demostramos que la forma concreta en que se realizaba la renta podía alterar las estructuras sociales de las comunidades y que el desarrollo de las relaciones sociales asalariadas se encontraba muy vinculado a las coyunturas económicas y a las posibilidades y límites de la gestión señorial. Finalmente, ponemos de relieve que la transformación social no siempre fue irreversible y que su consolidación dependió de la incapacidad de los señores de ejercer sus poderes políticos.Palabras clave: renta feudal, gestión señorial, señorío eclesiástico, diferenciación social campesina, catedral de Salamanca. ABSTRACTThis paper analyses the long-term evolution of an ecclesiastical estate in order to shed light on estates in Leonese Extremadura. In particular, we consider an estate belonging to the cathedral chapter of Salamanca between the twelfth and fifteenth centuries, seeking to demonstrate that it did not possess an identical structure throughout this period and that its transformations can be explained by a complex combination of variables. These changes exerted an impact on social structures, and especially on peasant social differentiation processes. We demonstrate that specific rent collection methods had the capacity to modify the social structure of communities and that the development of wage labour was closely linked to economic trends and to the possibilities and constraints of seigniorial management. Lastly, we show that social transformation was not always irreversible and that its consolidation depended on the inability of the lords to exercise their political powers.
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