GFAP and Alexander disease: In this study, genetic panel testing in a 19‐month‐old boy with developmental delay, hypotonia, and abnormal brain MRI revealed a VUS, c.1126C>T, leading to p.R376W, in the glial fibrillary acidic protein (GFAP; OMIM:203450; NM_002055.4) which has previously been associated with Alexander disease (OMIM: 203450) 1.