Genetic etiology of progressive pediatric neurological disorders

CONCLUSIONS: The most common cause of childhood encephalopathies are de novo variants. Whole-exome sequencing, even singleton, proved to be an efficient tool to gain specific diagnoses and in finding de novo variants in a clinically heterogeneous group of childhood encephalopathies.IMPACT: Whole-exome sequencing is useful in heterogeneous pediatric neurology cohorts. Our article provides further evidence for and novel variants in several genes. De novo variants are an important cause of childhood encephalopathies.PMID:37563452 | DOI:10.1038/s41390-023-02767-z

Source: Pediatric Research - August 10, 2023 Category: Pediatrics Authors: Juho Aaltio Anna Etula Simo Ojanen Virginia Brilhante Tuula L önnqvist Pirjo Isohanni Anu Suomalainen Source Type: research