Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy

(2016) Young Ok Kim et al.   BRAIN & DEVELOPMENT

Clinical and genetic analysis of two Chinese infants with Mabry syndrome

(2016) Jiao Xue et al.   BRAIN & DEVELOPMENT

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

(2016) Charuta Joshi et al.   BRAIN & DEVELOPMENT

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

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

A recurrent germline mutation in thePIGAgene causes Simpson-Golabi-Behmel syndrome type 2

(2015) Christine Fauth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

(2015) Kenichiro Yamada et al.   JOURNAL OF MEDICAL GENETICS

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

(2014) P. B. Mills et al.   BRAIN

PIGOmutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

(2014) Kazuyuki Nakamura et al.   EPILEPSIA

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

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS Genetics

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the spectrum of phenotypes associated with germlinePIGAmutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

(2013) Saskia N. van der Crabben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

(2013) Kathryn J. Swoboda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

(2013) Denise Horn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality

(2013) Stefanie Belet et al.   HUMAN MUTATION

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

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Chihiro Ohba et al.   NEUROGENETICS

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Miles D. Thompson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Peter M Krawitz et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS