Article
Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Neurogenetics - 1 May 2021
Rampazzo Ana Carla Mondek, Dos Santos Rafael Rodrigues Pinheiro, Maluf Fernando Arfux, Simm Renata Faria, Marson Fernando Augusto Lima, Ortega Manoela Marques, de Aguiar Paulo Henrique Pires
Abstract excerpt
Dravet syndrome (DS) is a rare and severe epileptic syndrome of childhood with prevalence between 1/22,000 and 1/49,900 of live births. Approximately 80% of patients with this syndrome present SCN1A pathogenic variants, which encodes an alpha subunit of a neural voltage-dependent sodium channel. There is a correlation between PCDH19 pathogenic variants, encodes the protocadherin 19, and a similar disease to DS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.