1. Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome
- Author
-
Renato Borgatti, Maurizio Viri, Davide Passoni, Maria Elisabetta Raggi, Antonino Romeo, Sebastiano A. Musumeci, Daniela Valseriati, Rita Grasso, Paulo Piccinelli, Carlo Ferrarese, Maurizio Elia, Tiziana Cogliati, Borgatti, R, Piccinelli, P, Passoni, D, Romeo, A, Viri, M, Musumeci, S, Elia, M, Cogliati, T, Valseriati, D, Grasso, R, Raggi, M, and Ferrarese, C
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,GABRA5 ,Predictive Value of Test ,Biology ,gamma-Aminobutyric acid ,Follow-Up Studie ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Predictive Value of Tests ,030225 pediatrics ,Angelman syndrome ,Internal medicine ,medicine ,Humans ,Child ,gamma-Aminobutyric Acid ,Diazepam Binding Inhibitor ,GABAA receptor ,medicine.disease ,Receptors, GABA-A ,Chromosome Banding ,Endocrinology ,Phenotype ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Epilepsy syndromes ,biology.protein ,GABAergic ,Epilepsy, Generalized ,Female ,Neurology (clinical) ,Epilepsies, Partial ,Angelman Syndrome ,Chromosome Deletion ,Diazepam binding inhibitor ,030217 neurology & neurosurgery ,medicine.drug ,Human ,Follow-Up Studies - Abstract
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. ( J Child Neurol 2003; 18: 21—25).
- Published
- 2003