Although CLN7 is ubiquitously expressed, high expression levels have been seen in specific neuronal cell types and retinal cells, which is in line with the most severely affected tissues in v‐LINCL.13, 18, 19, 20MFSD8 transcripts that lack exon 2, exon 7, exons 7 and 8, and exon 11 have been described, but only the 5 kb transcript, consisting of 13 exons seems to be expressed in the brain.5 There is no indication that mutations in alternatively spliced exons or in surrounding introns lead to an atypical or notably milder disease course. The gene discussed is MFSD8; the disease is late infantile neuronal ceroid lipofuscinosis.