In WES analysis, <i>GFAP</i> missense heterozygous variant NM_002055.5: c.1187C>T, p.(Thr396Ile) was detected, confirming the diagnosis of AxD.<h4>Conclusion</h4>AxD should be considered in the differential diagnosis in all neonates with progressive, intractable seizures accompanied by macrocephaly. Here, GFAP is linked to Alexander disease.