(Q42428327)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28334793%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28334793%20AND%20SRC:MED&resulttype=core&format=json

Phosphatidylinositol glycan anchor biosynthesis class P

13 March 2020

main subject

1 reference

GPI anchor biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

7

1 reference

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13 March 2020

Philippe M. Campeau

19

1 reference

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13 March 2020

18

Kym M Boycott

1 reference

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13 March 2020

author name string

Devon L Johnstone

1

1 reference

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13 March 2020

Thi-Tuyet-Mai Nguyen

2

1 reference

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13 March 2020

Yoshiko Murakami

3

1 reference

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13 March 2020

Kristin D Kernohan

4

1 reference

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13 March 2020

Martine Tétreault

5

1 reference

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13 March 2020

Claire Goldsmith

6

1 reference

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13 March 2020

Justin D Wagner

8

1 reference

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13 March 2020

Lijia Huang

9

1 reference

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13 March 2020

Taila Hartley

10

1 reference

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13 March 2020

Anik St-Denis

11

1 reference

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13 March 2020

Françoise le Deist

12

1 reference

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13 March 2020

Jacek Majewski

13

1 reference

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13 March 2020

Dennis E Bulman

14

1 reference

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13 March 2020

Care4Rare Canada Consortium

15

1 reference

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13 March 2020

Taroh Kinoshita

16

1 reference

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13 March 2020

David A Dyment

17

1 reference

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13 March 2020

publication date

1 May 2017

1 reference

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13 March 2020

published in

Human Molecular Genetics

1 reference

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13 March 2020

volume

26

1 reference

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13 March 2020

issue

9

1 reference

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13 March 2020

page(s)

1706-1715

1 reference

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Biosynthesis and deficiencies of glycosylphosphatidylinositol

13 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

21 January 2018

1 reference

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DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

21 January 2018

1 reference

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Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

21 January 2018

1 reference

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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

21 January 2018

1 reference

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

1 reference

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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

21 January 2018

1 reference

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PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

21 January 2018

1 reference

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The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

21 January 2018

1 reference

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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

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Vitamin B6-responsive epilepsy due to inherited GPI deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

21 January 2018

1 reference

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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

21 January 2018

1 reference

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Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

21 January 2018

1 reference

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

21 January 2018

1 reference

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Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDX077

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

21 January 2018

1 reference

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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

21 January 2018

1 reference

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A global reference for human genetic variation

21 January 2018

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

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Distribution and intensity of constraint in mammalian genomic sequence

21 January 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Predicting deleterious amino acid substitutions

21 January 2018

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MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

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Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

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Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis

21 January 2018

1 reference

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GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

21 January 2018

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Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

21 January 2018

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Levetiracetam resistance: Synaptic signatures & corresponding promoter SNPs in epileptic hippocampi

21 January 2018

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Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

21 January 2018

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GPI-anchored proteins at the node of Ranvier.

21 January 2018

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Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDX077

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28334793%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference