Publication: Atypical presentation of aromatic L-amino acid decarboxylase deficiency with developmental epileptic encephalopathy
This case study, published in the Journal of Pediatric Epilepsy, presents a patient with genetically-confirmed aromatic L-amino acid decarboxylase (AADC) deficiency presenting with developmental epileptic encephalopathy (DEE)
Read the case study of a patient with severe intractable epileptic spasms and DEE whose exome sequencing revealed a homozygous mutation in the DDC gene
Understand the clinical spectrum of AADC deficiency and the association between dopa decarboxylase deficiency and epilepsy are outlined
Marchese F, et al. J Pediatr Epilepsy. 2021;10(03):124–127
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MED-ALL-AADC-2200023 | March 2022
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