Related Experiment Video

Updated: Feb 11, 2026

Extraction and Analysis of Taiwanese Green Propolis

Extraction and Analysis of Taiwanese Green Propolis

Published on: January 7, 2019

A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy

Wei-De Lin¹, I-Ching Chou², Fuu-Jen Tsai³

¹School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan; Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.

|April 16, 2018

Abstract

Purpose:

We report the first family with PIGA-associated epileptic encephalopathy in Taiwan and hope to elucidate its special phenotype and inheritance pattern.

Method:

We found a Taiwanese family with several members suffered from severe epileptic encephalopathy (ZY07, ZY01, ZY04). To determine the underlying etiology, whole exome sequencing was conducted.

Results:

A single novel variant, NM_002641: c.356G > A, p.Arg119Gln, was identified in the X chromosome PIGA gene in our proband patient (ZY07). The patient's mother (ZY02) and aunt (ZY03) were confirmed as carriers of the hemizygous variant.

Conclusions:

This paper highlights the highly transmitted features of PIGA and other X-linked EIEEs, raising awareness of rare forms of epileptic encephalopathy.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Related Concept Videos

Protein Families

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key...

Protein Families

Protein Families

Gene Families

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

Gene Families

Gene Families

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Articles linked to this work by shared authors, journal, and citation graph.

Dung-shen (Codonopsis pilosula) attenuated the cardiac-impaired insulin-like growth factor II receptor pathway on myocardial cells.

Food chemistry·2013

The contribution of XRCC6/Ku70 to hepatocellular carcinoma in Taiwan.

Anticancer research·2013

Alpinate oxyphyllae fructus (Alpinia Oxyphylla Miq) extracts inhibit angiotensin-II induced cardiac apoptosis in H9c2 cardiomyoblast cells.

Bioscience, biotechnology, and biochemistry·2013

The contribution of caveolin-1 genotype and phenotype to hepatocellular carcinoma.

Anticancer research·2013

Rsf-1, a chromatin remodelling protein, interacts with cyclin E1 and promotes tumour development.

The Journal of pathology·2013

The Effect of Elephantopus scaber L. on Liver Regeneration after Partial Hepatectomy.

Evidence-based complementary and alternative medicine : eCAM·2013

See all related articles