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


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.


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Feb 6, 2002·Brain Research Bulletin·Christian Andres
Jan 19, 2007·Neuropsychobiology·Soon Ae KimHee Jeong Yoo
Sep 29, 2004·The European Journal of Neuroscience·Saku T SinkkonenEsa R Korpi
Oct 15, 2009·Anaesthesia·M Maguire
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Apr 24, 2014·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Laura M HodgesSteven P Hamilton
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Feb 27, 2016·Epilepsia·Hirofumi KoderaNaomichi Matsumoto
Oct 21, 2015·The Journal of Clinical Investigation·Caroline F BruinsmaYpe Elgersma
Apr 27, 2018·Anesthesiology and Pain Medicine·Mary Ellen WarnerToby N Weingarten
Aug 23, 2019·AIMS Genetics·Eun Jeong Kim, Yong-Ku Kim


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Related Concepts

BHLHE22 wt Allele
Positron-Emission Tomography
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.