Is X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
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DOI: 10.1111/epi.16817
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… read more here.
Keywords: alg13 related; related developmental; linked infantile; onset alg13 ... See more keywords
A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
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DOI: 10.3390/genes15050525
Abstract: Infantile onset transient hypomyelination (IOTH) is a rare form of leukodystrophy that is associated with transient motor impairment and delayed central nervous system myelination. Here, we report a case of a new mutation in the… read more here.
Keywords: infantile transient; linked infantile; hypomyelinating leukodystrophy; transient hypomyelinating ... See more keywords