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. 2020 Feb 11;9(2):408. doi: 10.3390/cells9020408

Table 1.

Genetic mutations affecting the ER-to-Golgi trafficking machinery in neurological diseases.

Mutated Genes Neurological Diseases References
SEC31A Syndrome characterized by developmental delay, microcephaly, and epilepsy [80]
SEC24B Neural tube defect [81]
TECPR2 Hereditary spastic paraplegia [83,84]
cTAGE5 Idiopathic basal ganglia calcification [85]
TFG Hereditary spastic paraplegia, Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy [86,87,88,89,90]
TRAPPC6A Neurodevelopmental syndrome with dysmorphic features [91]
TRAPPC6B Neurodevelopmental disorders with microcephaly, epilepsy and autism symptoms [92]
TRAPPC9 Intellectual disability frequently associated with microcephaly [93,94]
TRAPPC2L Encephalopathy and rhabdomyolysis [95]
TRAPPC12 Childhood encephalopathy [96]