Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia-Reference-Cited by-同舟云学术

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Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia

Published:2020-06-16 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Zhang Lily,Mao Xiao,Long Hongyu,Xiao Bo,Luo Zhaohui,Xiao Wenbiao,Jin Xingbing

Funder

National Natural Science Foundation of China

Hunan Provincial Science and Technology Department

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference16 articles.

1. Targeted therapy for inherited GPI deficiency.;Almeida;N. Engl. J. Med.,2007

2. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.;Almeida;Nat. Med.,2006

3. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.;Chiyonobu;J. Med. Genet.,2014

4. Solving glycosylation disorders: fundamental approaches reveal complicated pathways.;Freeze;Am. J. Hum. Genet.,2014

5. GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.;Fujita;Biochim. Biophys. Acta,2012

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1. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures;Journal of Human Genetics;2024-06-20

2. Congenital disorders of glycosylation and infantile epilepsy;Epilepsy & Behavior;2023-05

3. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review;Children;2023-03-15

4. Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report;Translational Pediatrics;2023-03

5. Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review;Frontiers in Neurology;2022-01-04

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