Ethics approval and consent to participate The study protocol was approved by the Institutional Review Board at Chonnam National University Hospital (CNUH-2014-066), and conducted in accordance with the 1964 Declaration of Helsinki and its later amendments. Written informed consents for the use of the medical records and GFAP gene sequences were obtained from all the participants including members of the proband’s family. Zebrafish study was granted a waiver of ethics approval by the Chonnam National University Medical School Institutional Animal Care and Use Committee. Consent for publication Written informed consent was obtained from the patient for publication of this case report. Competing interests The authors declare that they have no competing interests. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.