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Is X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy a congenital disorder of glycosylation?

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1Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA 2Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery… Click to show full abstract

1Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA 2Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA 3Department of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

Keywords: alg13 related; related developmental; linked infantile; onset alg13; genetics; infantile onset

Journal Title: Epilepsia
Year Published: 2021

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