| Type | Transmission | Publication . Mgi Jnum | J:240526 |
| Publication . Citation | Hall EA, et al. (2017) PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet 100(5):706-724 |