Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem

Albee Messing and Josh Bonkowsky discuss the following recent publication: 

[02:13]       Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European Journal of Medical Research  27, 174 (2022) [full text]

[14:20]       Questions from email regarding the brainstem in Alexander disease.

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Chapters

• 2:13 Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
• 14:20 Questions about brainstem