Peripheral markers of the γ-aminobutyric acid (GABA) ergic system in Angelman's syndrome

Renato Borgatti, Paulo Piccinelli, Davide Passoni, Antonino Romeo, Maurizio Viri, Sebastiano A. Musumeci, Maurizio Elia, Tiziana Cogliati, Daniela Valseriati, Rita Grasso, Maria E. Raggi, Carlo Ferrarese

Research output: Contribution to journalArticlepeer-review


It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three γ-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in the deleted region, a possible modification of peripheral markers of the GABAergic system was investigated in 12 subjects with Angelman's syndrome and 20 age-matched subjects (8 with idiopathic epilepsy and 12 not affected by neurologic diseases). The results confirmed a more severe clinical picture, and epilepsy syndrome in particular, in Angelman's syndrome patients with deletions versus patients without deletions. In contrast, biochemical study (based on dosage of plasma levels of GABA and diazepam binding inhibitor, an endogenous ligand of GABAA and peripheral benzodiazepine receptors, showed contradictory results: patients with Angelman's syndrome showed significantly higher levels of GABA and diazepam binding inhibitor than patients without neurologic impairment but significantly lower levels than epileptic controls.

Original languageEnglish
Pages (from-to)21-25
Number of pages5
JournalJournal of Child Neurology
Issue number1
Publication statusPublished - Jan 1 2003

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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