Type II Alexander disease caused by splicing errors and aberrant overexpression of a GFAP isoform

Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A. Simons C. (2020). Type II Alexander disease caused by splicing errors and aberrant overexpression of a GFAP isoform. Human Mutation 41, 1131-1137. [two very unusual variants, one without even an amino acid change – note that patient #2 was previously reported as #43 in Li et al. 2005, where he was described as not having an identifiable variant]