PMID: 11198279Feb 24, 2001

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions

Annals of Neurology
I E HolopainenEsa R Korpi

Abstract

We used positron emission tomography (PET) to study brain [11C]flumazenil (FMZ) binding in four Angelman syndrome (AS) patients. Patients 1 to 3 had a maternal deletion of 15q11-q13 leading to the loss of beta3 subunit of gamma-aminobutyric acidA/benzodiazepine (GABA(A)/BZ) receptor, whereas Patient 4 had a mutation in the ubiquitin protein ligase (UBE3A) saving the beta3 subunit gene. [11C]FMZ binding potential in the frontal, parietal, hippocampal, and cerebellar regions was significantly lower in Patients 1 to 3 than in Patient 4. We propose that the 15q11-q13 deletion leads to a reduced number of GABA(A)/BZ receptors, which could partly explain the neurological deficits of the AS patients.

References

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Citations

Mar 1, 1995·Neuropharmacology·Hartmut LüddensP H Seeburg
May 1, 1995·Human Genetics·H KokkonenJ Leisti
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·Gregg E HomanicsRichard W Olsen
Apr 1, 1997·Genomics·K GlattM Lalande
Nov 19, 1997·Trends in Neurosciences·Y Ben-AriJ L Gaiarsa
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Related Concepts

BHLHE22 wt Allele
Positron-Emission Tomography
Brain
Ubiquitin-Protein Ligase Complexes
Gene Deletion Abnormality
Gene Deletion
Tomography, Emission-Computed
GABA-A Receptor
UBE3A gene
Benzodiazepine [EPC]

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Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.