Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.
Justyna PaprockaMagdalena NowakMagdalena Machnikowska-SokołowskaKarolina RutkowskaPloski RafalPublished in: Genes (2024)
AxD should be considered in the differential diagnosis in all neonates with progressive, intractable seizures accompanied by macrocephaly.