Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns
Front Genet. 2024 Sep 12;15:1464556. doi: 10.3389/fgene.2024.1464556. eCollection 2024. ABSTRACT The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in …