EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.
Ilaria FilaretoGiulia CinelliIlaria ScalabriniElisa CaramaschiPatrizia BergonziniElisabetta SpeziaAlessandra TodeschiniLorenzo LughettiPublished in: Italian journal of pediatrics (2022)
Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid neurological worsening, and poor prognosis, with death in few months or years. Clinical presentation of epilepsy is poorly documented and do not include detailed information about the type, time of onset and severity of seizures. No therapeutic strategies for VWM disease have been reported.