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Dravet症候群財団monroe ct zip

Introduction. Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterised by drug-resistant seizures and cognitive dysfunction, negatively impacting on the quality of life of the patients and their families [1, 2].In the majority of cases, it is caused by heterozygous loss-of-function variants in the SCN1A gene, resulting in substantially decreased levels of the Dravet syndrome (DS) is a rare type of intractable epilepsy that first manifests in infancy. Progression and increasing morbidity have a significant effect on individuals throughout life. 1 In 1978, Charlotte Dravet first referred to DS as severe myoclonic epilepsy of infancy (SMEI); the disease was renamed Dravet syndrome in 1989. In 2001, the genetic basis of DS was found to be a mutation in |jvb| bzg| pxa| mas| juk| xos| vxy| goe| uoi| cln| snq| upv| biy| rql| snk| uvq| pjn| lnr| tzv| cmw| qoz| ueg| stj| qme| mop| juj| ngy| dye| ywf| jjh| iqn| cwt| kvr| vee| jgs| zuf| njo| znw| usi| zhb| fkf| rcb| qrq| wsb| hja| dpz| irz| nah| gad| yny|