Ontology highlight
ABSTRACT:
SUBMITTER: Walker S
PROVIDER: S-EPMC5961193 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Neurology. Genetics 20180518 3
<h4>Objective</h4>To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting.<h4>Methods</h4>Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rare variants were prioritized for interpretation with respect to the phenotype.<h4>Results</h4>A previously undescribed, 1-kb homozygous deletion was identified in both individuals sequence ...[more]