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

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

Metabolic brain disease - 1 Dec 2017

Zehavi Yoav, von Renesse Anja, Daniel-Spiegel Etty, Sapir Yonatan, Zalman Luci, Chervinsky Ilana, Schuelke Markus, Straussberg Rachel, Spiegel Ronen

Abstract excerpt

We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI...

Read the complete abstract on PubMed

Topics

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

Share to Agenesis of Corpus Callosum
Share to Alkaline Phosphatase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Infant

Share to Membrane Proteins

Share to Spasms, Infantile

Share to Ultrasonography

Source

Identifiers

PMID: 28900819
DOI: 10.1007/s11011-017-0109-y

Genes

PIGO
GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.PMID 28900819Read ↗

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

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.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 PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

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

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.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 ↗

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

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

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

PIGO deficiency: palmoplantar keratoderma and novel mutations.Semantic proximity Read ↗

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