A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report

A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report

Neonatal encephalopathy (NE) is a complex clinical condition with diverse etiologies. Hypoxic-ischemic encephalopathy (HIE) is a major contributor to NE cases. However, distinguishing NE subtypes, such as pontocerebellar hypoplasia type 1E (PCH1E), from HIE can be challenging due to overlapping clin...

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Bibliographic Details
Main Authors: Adrien Guillaume, Vojtech Stejskal, Guillaume Smits, Dorottya Kelen
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Pediatrics
Subjects:
neonatal encephalopathy
pontocerebellar hypoplasia type 1E
SLC25A46
clinical diagnosis
therapeutic strategies
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1303772/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1303772/full

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