Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Alberto A ZambonDaniele GhezziCristina BaldoliGianni CutilloKatia FontanaValentina SofiaMaria Grazia PatricelliAlessia NascaStefano VinciIvana SpigaEleonora LamanteaGiovanna F FanelliMaria Grazia Natali SoraRosanna RovelliAntonella PoloniatoPaola CarreraMassimo FilippiGraziano BareraPublished in: Annals of clinical and translational neurology (2023)
This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.