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From Electrophysiology to Chromatin: A Bottom‐Up Approach to Angelman Syndrome
Author(s) -
DAN BERNARD,
SERVAIS LAURENT,
BOYD STEWART G.,
WAGSTAFF JOSEPH,
CHERON GUY
Publication year - 2004
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1329.070
Subject(s) - angelman syndrome , ube3a , neuroscience , cerebral cortex , cortex (anatomy) , electrophysiology , biology , psychology , medicine , genetics , gene , ubiquitin ligase , ubiquitin
A bstract : Angelman syndrome is one of the most studied human diseases related to a gene that is expressed on the maternal chromosome only in at least some brain cells. It is caused by inactivation of the UBE3A gene in the brain due to various abnormalities of the 15q11‐q13 chromosome inherited from the mother. It is characterized by severe developmental delay, seizures, virtual absence of speech, motor impairment, and a particular behavioral phenotype. Studies of cortical, electromyographic and cerebellar electrophysiology in patients with Angelman syndrome and a mouse model revealed unique rhythmic neurophysiological activities in the cerebral cortex, cerebellar cortex, and muscles. The oscillatory patterns may be linked to molecular pathophysiology of the syndrome involving dysregulation of synaptic neurotransmission through UBE3A ‐related modulation of functional GABAA receptor complexes.