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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Detalhes bibliográficos

Principais autores:	Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-12-01
Colecção:	Frontiers in Neurology
Assuntos:	epilepsy focal seizures AADC deficiency DDC gene compound heterozygous variants autonomic dysfunction
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1284339/full
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