Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.
Haj Mohammad Hassani B et al.
Neurogenetics, 2024
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Furukawa S et al.
American Journal of Medical Genetics. Part A, 2024
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