GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms
Irene Mademont‐Soler, Dolors Casellas Vidal, Alberto Trujillo, Núria Espuña‐Capote et autres
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 …
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8 citations
American Journal of Medical Genetics Part A