Electronic Resource
Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome
| العنوان: | Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome |
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| المؤلفون: | Borgatti, R, Piccinelli, P, Passoni, D, Romeo, A, Viri, M, Musumeci, S, Elia, M, Cogliati, T, Valseriati, D, Grasso, R, Raggi, M, Ferrarese, C, Musumeci, SA, Raggi, ME, FERRARESE, CARLO |
| بيانات النشر: | PSG Pub. Co. 2003 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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 gamma-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. |
| مصطلحات الفهرس: | Diazepam Binding Inhibitor, Male, Adolescent, Epilepsies, Partial, Female, Child, Preschool, Phenotype, Predictive Value of Test, Epilepsy, Generalized, Human, Chromosome Banding, Follow-Up Studie, Angelman Syndrome, Chromosome Deletion, Child, Receptors, GABA-A, Adult, gamma-Aminobutyric Acid, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/wos/WOS:000181645500005 volume:18 issue:1 firstpage:21 lastpage:25 numberofpages:5 journal:JOURNAL OF CHILD NEUROLOGY |
| الاتاحة: | Open access content. Open access content |
| ملاحظة: | English |
| Other Numbers: | ITBAO oai:boa.unimib.it:10281/15252 10.1177/08830738030180010801 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0037247343 1346403886 |
| المصدر المساهم: | BICOCCA OPEN ARCH From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1346403886 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |