Dravet syndrome in South African infants: Tools for an early diagnosis.

ABSTRACT:

Purpose

Dravet syndrome (DS) is a well-described, severe genetic epileptic encephalopathy with an increased risk of SUDEP. The incidence and genetic architecture of DS in African patients is virtually unknown, largely due to lack of awareness and unavailability of genetic testing. The clinical benefits of the available precision medicine approaches to treatment emphasise the importance of an early, correct diagnosis. We investigated the genetic causes and clinical features of DS in South African children to develop protocols for early, cost-effective diagnosis in the local setting.

Method

We selected 22 South African children provisionally diagnosed with clinical DS for targeted resequencing of DS-associated genes. We sought to identify the clinical features most strongly as

SUBMITTER: Esterhuizen AI 

PROVIDER: S-EPMC6261486 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature