Mutations in TRAPPC2L result in a neurodevelopmental disorder with febrile illness-induced encephalopathy, episodes of rhabdomyolysis, development arrest, epilepsy and tetraplegia
Two individuals from unrelated families presented a similar phenotype of neurodevelopmental delay, febrile illness-induced encephalopathy and episodes of rhabdomyolysis, followed by developmental arrest, epilepsy and tetraplegia. Whole exome sequencing identified bi-allelic mutations in TRAPPC2L, which encodes a component of transport protein particle (TRAPP), a group of multisubunit complexes that function in membrane traffic and autophagy. The study published in the Journal of Medical Genetics implicated that TRAPPC2L is involved in the phenotype of these two patients.
J Med Genet. 2018 Nov;55(11):753-764