Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations
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DOI: 10.3389/fnins.2022.1076183
Abstract: Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death. NARS2 mutations are associated with… read more here.
Keywords: epilepsia partialis; nars2 mutations; biallelic nars2; partialis continua ... See more keywords