Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine, and epinephrine deficiency. We report on a female patient with borderline functioning and sporadic clear-cut focal to bilateral...

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Bibliographic Details
Main Authors: Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Neurology
Subjects:
epilepsy
focal seizures
AADC deficiency
DDC gene
compound heterozygous variants
autonomic dysfunction
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1284339/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1284339/full

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