Variant: rs587784440

present in Gene: SPTAN1 present in Chromosome: 9 Position on Chromosome: 128632261 Alleles of this Variant: ACCAGCTGG/-;ACCAGCTGGACCAGCTGG

rs587784440 in SPTAN1 gene and Seizures PMID 22656320 2013 Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.

PMID 25631096 2015 SPTAN1 encephalopathy: distinct phenotypes and genotypes.