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Paper Details

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
111
2013
ARHGEF9, ASD, GABA, GPHN, GPHN gene, GPHN mRNA, Gephyrin, NLGN2, NLGN4, NRXN1, NRXN2, NRXN3, alkalosis, autism, autism spectrum disorder, autosomal recessive molybdenum cofactor deficiency, chromosome 14q23, collybistin, epilepsy, exons, exons 3-5, gephyrin, gephyrin protein, glycine, glycine and GABA receptors, molybdenum, molybdenum cofactor, neurexins, neurodevelopmental, neurodevelopmental conditions, neurodevelopmental disorders, neuroligins, schizophrenia, seizures, temporal lobe epilepsy

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Release 1.2