Associated Papers
The second family affected with a PRDM8-related disease.
Davarzani A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity.
Jung CC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Are c.436G>A mutations less severe forms of Lafora disease? A case report.
Lanoiselée HM et al.
Epilepsy & Behavior Case Reports, 2014
Early-onset Lafora body disease.
Turnbull J et al.
Brain : a Journal of Neurology, 2012
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