PIGW ‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature-Reference-Cited by-同舟云学术

PIGW ‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature

Published:2020-03-21 Issue:6 Volume:182 Page:1477-1482
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Peron Angela¹²^ORCID,Iascone Maria³^ORCID,Salvatici Elisabetta⁴,Cavirani Benedetta⁵,Marchetti Daniela³,Corno Silvia⁵,Vignoli Aglaia⁵^ORCID

Affiliation:

1. Child Neuropsychiatry Unit—Epilepsy Center (Medical Genetics Clinic), ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health SciencesUniversità degli Studi di Milano Milan Italy

2. Department of Pediatrics, Division of Medical GeneticsUniversity of Utah School of Medicine Salt Lake City Utah USA

3. Laboratorio di Genetica MedicaASST Papa Giovanni XXIII Bergamo Italy

4. Department of PediatricsASST Santi Paolo e Carlo, San Paolo Hospital Milan Italy

5. Child Neuropsychiatry Unit—Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health SciencesUniversità degli Studi di Milano Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61555

Reference23 articles.

1. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

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

3. Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

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

5. Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants

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