Expanding sptan1 monoallelic variant associated disorders: from epileptic encephalopathy to pure spastic paraplegia and ataxia

HIGHLIGHTS

• who: Heba Morsy from the (UNIVERSITY) have published the research: Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia, in the Journal: (JOURNAL) of 28/03/2022
• how: The authors conducted this study to delineate the phenotypic spectrum of variants. The authors carried out gene enrichment analysis in the rare disease component of the 100 000 Genomes Project and screened 100 000 Genomes Project DECIPHER database and GeneMatcher to identify individuals with variants.

SUMMARY

The αII-spectrin gene, SPTAN1 (OMIM 182810), encodes a membrane scaffolding . . .

 



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