Ontology highlight
ABSTRACT:
SUBMITTER: Lazo PA
PROVIDER: S-EPMC7352878 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
International journal of molecular sciences 20200623 12
Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy, severe neuromotor and developmental delay, dystonic tetraparexia, axonal motor affectation, and hyper-excitability of unknown origin. The WES study detected within the patient a de novo heterozygous ...[more]