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The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.

Neurogenetics - 1 Oct 2024

Haj Mohammad Hassani Behzad, Malekzadeh Kianoosh

Abstract excerpt

FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a severe condition caused by ATP1A2 gene variants. The syndrome's novelty and rarity have limited its clinical and molecular knowledge. This research tries to provide new insight by investigating the cause of the early deaths due to FARIMPD syndrome in a particular family and reviewing previous...

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PMID: 39046620
DOI: 10.1007/s10048-024-00775-7

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