Publication: Diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency via epilepsy gene panel screening in a patient with atypical presentation
This case report, published in Child Neurol Open, describes the diagnosis of AADC in a patient with atypical presentation using an epilepsy gene panel
- Review the case presentation of a patient with atypical AADC deficiency symptoms
- Learn how an epilepsy gene panel helped to diagnose AADC deficiency
- Understand the importance of genetic testing for AADC deficiency
Gantz E, et al. Child Neurol Open. 2023;10
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