Dataset Information
EGAS00001000048-sc-20120215 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000108 | EGA |
REPOSITORIES: EGA
Publications
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO molecular medicine 20151201 12
Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable for normal inhibitory neurotransmission. Additionally, gephyrin catalyzes the synthesis of the molybdenum cofactor (MoCo) in peripheral tissue. We identified a de novo missense muta ...[more]