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Home | Central nervous system | Aromatic L-amino acid decarboxylase (AADC) deficiency | Publications | Publication: Atypical presentation of aromatic L-amino acid decarboxylase deficiency with developmental epileptic encephalopathy

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
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MED-US-CORP-2500008 | November 2025

Marchese F, et al. J Pediatr Epilepsy. 2021;10(03):124–127

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