Associated Papers
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E et al.
Medicina (kaunas, Lithuania), 2022
36363484 (PubMed )
Supplement: medicina-58-01526-s001.zip › Supplementary_table_1_Clinical_features.xlsx › Clinical_features
PIGN encephalopathy: Characterizing the epileptology.
Bayat A et al.
Epilepsia, 2022
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1.
Xiao SQ et al.
Frontiers in Genetics, 2020
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
Kolicheski AL et al.
Neurogenetics, 2017
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM et al.
Human Mutation, 2016
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Khayat M et al.
American Journal of Medical Genetics. Part A, 2016
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L et al.
American Journal of Medical Genetics. Part A, 2016
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
Nakagawa T et al.
American Journal of Medical Genetics. Part A, 2016
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2015
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Ohba C et al.
Neurogenetics, 2014
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
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