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Common features of affected patients include neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and musculoeskeletal anomalies. All reported affected patients harbor biallelic genetic variants in <jats:italic>SLC6A9<\/jats:italic>. SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel genetic variant c.997delC in <jats:italic>SLC6A9<\/jats:italic> was detected in homozygous state in the patient. At protein level, the predicted change is p.(Arg333Alafs*3), which most probably results in a loss of protein function. The variant cosegregated with the disease in the family. A subsequent pregnancy with ultrasound anomalies was also affected. The proband presented the core phenotypic features of GLYT1 encephalopathy, but also a burst suppression pattern on the electroencephalogram, a clinical feature not previously associated with the disorder. Our results suggest that the appearance of this pattern correlates with higher cerebrospinal fluid glycine levels and cerebrospinal fluid\/plasma glycine ratios. A detailed discussion on the possible pathophysiological mechanisms of the disorder is also provided.<\/jats:p>","DOI":"10.1002\/ajmg.a.61996","type":"journal-article","created":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T06:27:42Z","timestamp":1606976862000},"page":"476-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<scp>GLYT1<\/scp> encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6501-9250","authenticated-orcid":false,"given":"Irene","family":"Mademont\u2010Soler","sequence":"first","affiliation":[{"name":"\u00c0rea de Gen\u00e8tica Cl\u00ednica i Consell Gen\u00e8tic Laboratori Cl\u00ednic Territorial Girona, Institut Catal\u00e0 de la Salut  Girona 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