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Article

A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.

Brain & development - 1 May 2023

Özkan Kart Pınar, Citli Senol, Yildiz Nihal, Cansu Ali

Abstract excerpt

BACKGROUND: 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. CASE REPORTS: A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance,...

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Identifiers

PMID: 36759255
DOI: 10.1016/j.braindev.2023.01.006

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