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.