Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures - Lionel, Anath C.; Vaags, Andrea K.; Sato, Daisuke; Gazzellone, Matthew J.; Mitchell, Elyse B.; Chen, Hong Yang; Costain, Gregory; Walker, Susan; Egger, Gerald; Thiruvahindrapuram, Bhooma; Merico, Daniele; Prasad, Aparna; et al. (Human molecular genetics, 2013)
Keywords: Autistic Disorder; Base Sequence; Calcium-Binding Proteins; Carrier Proteins - genetics; Carrier Proteins - metabolism; Cell Adhesion Molecules, Neuronal - genetics; Cell Adhesion Molecules, Neuronal - metabolism; Chromosomes, Human, Pair 14 - genetics; Chromosomes, Human, Pair 14 - metabolism; Exons; Female; Guanine Nucleotide Exchange Factors - genetics; Guanine Nucleotide Exchange Factors - metabolism; Humans; Male; Membrane Proteins - genetics; Membrane Proteins - metabolism; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Neural Cell Adhesion Molecules; Receptors, GABA - genetics; Receptors, GABA - metabolism; Receptors, Glycine - genetics; Receptors, Glycine - metabolism; Rho Guanine Nucleotide Exchange Factors; RNA Splicing - genetics; Schizophrenia - genetics; Schizophrenia - metabolism; Seizures - genetics; Seizures - metabolism; Sequence Deletion; Synaptic Membranes - genetics; Synaptic Membranes - metabolism