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Article

Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.

Clinical neurology and neurosurgery - 1 Jul 2022

Tang Xinghua, Li Xinjuan, Chen Yuncan, Wu Dongyan

Abstract excerpt

PURPOSE: NHLRC1 gene mutations are present in a varied proportion of patients with Lafora disease (LD). Compound heterozygosity for novel variations of the gene has been reported in progressive Lafora myoclonic epilepsy of Lafora pedigree. METHODS: The clinical data of the cases were collected for diagnosis, and the genetic spectrum of the family was confirmed. For molecular diagnosis, whole-exome sequencing...

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PMID: 35569391
DOI: 10.1016/j.clineuro.2022.107255

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