Article
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.
American journal of medical genetics. Part A - 1 Feb 2021
Mademont-Soler Irene, Casellas-Vidal Dolors, Trujillo Alberto, Espuña-Capote Núria, Maroto Anna, García-González Maria Del Mar, Ruiz María Dolores, Diego-Álvarez Dan, Queralt Xavier, Perapoch Josep, Obón María
Abstract excerpt
GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of affected patients include neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and...
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