Defects in GABA Receptors

Angelman syndrome is linked to deletions in human chromosome 15, specifically in the area that codes for the cluster of GABAA receptor subunits a5/b3/g3. Severe mental retardation, epilepsy, movement disorders, inappropriate laughter, and craniofacial abnormalities characterize this disorder. A similar syndrome, Prader-Willi syndrome, shows mild mental retardation, hypotonia, hyperphasia, and hypogonad-ism. The two syndromes are linked to the same gene; however, Angelman's is linked to the maternal gene, whereas Prader-Willi is linked to the paternal gene.

Epilepsy and craniofacial abnormalities are characteristic of other GABA-related disorders, highlighting GABA's role in both development and signaling, although the connection between gene deletions and symptoms is unclear.

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