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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

27 Sept 2018

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PMID: 30269814
DOI: 10.1016/j.ajhg.2018.08.014

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic EncephalopathyPMID 30269814Read ↗

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain AnomaliesSemantic proximity Read ↗

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.Semantic proximity Read ↗

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.Semantic proximity Read ↗

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.Semantic proximity Read ↗

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Semantic proximity Read ↗

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Semantic proximity Read ↗

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.Semantic proximity Read ↗

A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.Semantic proximity Read ↗

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Semantic proximity Read ↗

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Semantic proximity Read ↗

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.Semantic proximity Read ↗

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.Semantic proximity Read ↗

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