Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Epilepsia - 1 Feb 2021

Efthymiou Stephanie, Dutra-Clarke Marina, Maroofian Reza, Kaiyrzhanov Rauan, Scala Marcello, Reza Alvi Javeria, Sultan Tipu, Christoforou Marilena, Tuyet Mai Nguyen Thi, Mankad Kshitij, Vona Barbara, Rad Aboulfazl, Striano Pasquale, Salpietro Vincenzo, Guillen Sacoto Maria J, Zaki Maha S, Gleeson Joseph G, Campeau Philippe M, Russell Bianca E, Houlden Henry

Abstract excerpt

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency. Previous studies described seven patients with biallelic variants in the PIGS gene, of whom two presented with fetal akinesia and five with global...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Microcephaly
Share to Muscle Hypotonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Acyltransferases

Share to Facies

Share to GPI-Linked Proteins

Share to Nervous System Malformations

Share to Spasms, Infantile

Share to Vision Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 33410539
DOI: 10.1111/epi.16801
PMCID: PMC7898547

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.PMID 33410539Read ↗

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.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 ↗

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.Semantic proximity Read ↗

The genotypic and phenotypic spectrum of PIGA deficiency.Semantic proximity Read ↗

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Semantic proximity Read ↗

PIGA related disorder as a range of phenotypes rather than two distinct subtypes.Semantic proximity Read ↗

Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

PIGC-related encephalopathy: Lessons learned from 18 new probands.Semantic proximity Read ↗

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.Semantic proximity Read ↗

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.Semantic proximity Read ↗

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.