Article
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
Molecular psychiatry - 1 Apr 2020
Chaumette Boris, Ferrafiat Vladimir, Ambalavanan Amirthagowri, Goldenberg Alice, Dionne-Laporte Alexandre, Spiegelman Dan, Dion Patrick A, Gerardin Priscille, Laurent Claudine, Cohen David, Rapoport Judith, Rouleau Guy A
Abstract excerpt
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium-potassium pump....
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