STXBP1 HAPLOINSUFFICIENCY IN EARLY ONSET EPILEPTIC ENCEPHALOPATHY Early onset epileptic encephalopathies that occur in very early childhood are rare but particularly catastrophic forms of epilepsy that are invariably associated with significant neurological morbidity (Nordli, 2012). Mutations in the Syntaxin Binding Protein 1 (STXBP1) gene have been linked with two distinct but related forms of...

We report the generation of West Nile virus (WNV) infectious clones for the pathogenic lineage 1 Texas-HC2002 and nonpathogenic lineage 2 Madagascar-AnMg798 strains. The infectious clones exhibited biological properties similar to those of the parental virus isolates. We generated chimeric viruses and found that viral factors within the structural and nonstructural regions of WNV-TX contribute ...

We report a case of a child who presented cerebral and ocular congenital toxoplasmosis associated with West syndrome. He was seen and followed-up in the in patients pediatric and ophthalmologic units at the Gyneco-Obstetric and Pediatric Hospital of Yaoundé in Cameroon between July 2008 and February 2010.

In the summer of 1975 an extensive epidemic of disease due to echovirus type 19 occurred in the West Midlands. The features of this outbreak, and their relationship to the syndrome referred to as 'epidemic neuromyasthenia', are discussed. The two diseases are considered to be separate entities.

Two individuals showing features typical of the autosomal recessive Ellis-van Creveld syndrome have been diagnosed in a population of 1340 individuals living on a small island off the west coast of Scotland. Clinical features and family relationships of the affected individuals are described.