Article
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
American journal of medical genetics. Part A - 1 Feb 2022
Blakes Alexander J M, English Joel, Banka Siddharth, Basu Helen
Abstract excerpt
Pathogenic variants in glutamate receptor, ionotropic, NMDA-1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental disorder with global developmental delay, with or without seizures (AD or AR GRIN1-NDD). Here, we describe a novel homozygous canonical splice site variant in GRIN1 in a 12-month-old boy with early infantile epileptic encephalopathy and severe global developmental delay. This...
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