Condition: Northern epilepsy syndrome
rs104894064 in
CLN8 gene and
Northern epilepsy syndrome
PMID 10508524 1999 EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence.
PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.