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Peripheral Markers of the -Aminobutyric Acid (GABA)ergic System in Angelman's Syndrome

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy borgatti{at}bp.lnf.it

Paulo Piccinelli

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy, Neuropsychiatric Unit University of Insubria, Varese, Italy

Davide Passoni

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy

Antonino Romeo

Regional Center for Epilepsy Fatebenefratelli and Oftalmico Hospital, Milano, Italy

Maurizio Viri

Regional Center for Epilepsy Fatebenefratelli and Oftalmico Hospital, Milano, Italy

Sebastiano A. Musumeci

Oasi Institute for Research on Mental Retardation and Brain Aging-IRCCS Troina, Enna, Italy

Maurizio Elia

Oasi Institute for Research on Mental Retardation and Brain Aging-IRCCS Troina, Enna, Italy

Tiziana Cogliati

Department of Neurology University of Milano-Bicocca, Monza, Italy

Daniela Valseriati

Department of Child Neuropsychiatry Spedali Civili, Brescia, Italy

Rita Grasso

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy

Maria E. Raggi

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy

Carlo Ferrarese

Scientific Institute "Eugenio Medea" Bosisio Parini, Lecco, Italy, Department of Neurology University of Milano-Bicocca, Monza, Italy

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 -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 GABA_A 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).

Journal of Child Neurology, Vol. 18, No. 1, 21-25 (2003)
DOI: 10.1177/08830738030180010801


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