Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

AlMuhaizea, Mohammed

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. [electronic resource] - Acta neuropathologica 04 2020 - 791-794 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1432-0533

10.1007/s00401-020-02128-8 doi


Brain Diseases--genetics
Child
Child, Preschool
Epilepsy--genetics
Female
Humans
Male
Microcephaly--genetics
Movement Disorders--genetics
Mutation
Pedigree
Vesicular Transport Proteins--genetics