Publications

Salter CG et al. Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain 2021. PMID: 34415310.

Pagnamenta AT et al. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Hum Mol Genet. 2015;24(13):3732-3741. PMID: 25855803.

Verdura E et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain 2021. PMID: 34415322.