Ontology highlight
ABSTRACT:
SUBMITTER: Bodian DL
PROVIDER: S-EPMC5983171 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Bodian Dale L DL Schreiber John M JM Vilboux Thierry T Khromykh Alina A Hauser Natalie S NS
Cold Spring Harbor molecular case studies 20180601 3
Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ∼20%-50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 wk of age, for whom gene panel testing was unrevealing. Research-based whole-genome sequencing of the proband and four unaffected family members identified a de novo mutation, NM_001323289.1:c.2828_2829delGA in <i>CDKL5,</i> a gene associated with X-linked ea ...[more]