A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement.
Source: Brain and Development - Category: Neurology Authors: P ınar Özkan Kart, Senol Citli, Nihal Yildiz, Ali Cansu Tags: Case Report Source Type: research