Ontology highlight
ABSTRACT:
SUBMITTER: Vanderver A
PROVIDER: S-EPMC4303471 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Pediatric neurology 20131010 1
<h4>Background</h4>More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy.<h4>Patient</h4>A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.<h4>Results</h4>Whole exome sequencing identified a heterozygous de novo mu ...[more]