Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Abstract 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), a...

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Main Authors: Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, EuroEPINOMICS Dravet working group, Candace T Myers, Heather C Mefford, Aarno Palotie, Ingo Helbig, Jochen C Meier, Peter De Jonghe, Sarah Weckhuysen, Guenter Schwarz
Format: Article
Language:English
Published: Springer Nature 2015-11-01
Series:EMBO Molecular Medicine
Subjects:
Dravet syndrome
epileptic encephalopathy
GABAA receptors
gephyrin
molybdenum cofactor
Online Access:https://doi.org/10.15252/emmm.201505323
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