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Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Author information

1
Department of Neurology Medical University of Vienna Vienna Austria.
2
Institute of Human Genetics Technical University Munich Munich Germany.
3
Institute for Genomic Statistics and Bioinformatics Rheinische Friedrich-Wilhelms Universität Bonn Germany.
4
Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany.
5
University Children's Hospital Paracelsus Medical University Salzburg Austria.
6
Krankenhaus Mara Bethel Epilepsy Centre Bielefeld Germany.
7
Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital Medical Faculty Heinrich-Heine-University Düsseldorf Düsseldorf Germany.
8
Institute of Neurogenomics Helmholtz Zentrum München Neuherberg Germany.

Abstract

Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, PIGP, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a homozygous frameshift mutation (c.456delA;p.Glu153Asnfs*34) in PIGP. Flow cytometry of patient granulocytes confirmed reduced expression of glycosylphosphatidylinositol-anchored proteins as functional consequence. Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy.

Conflict of interest statement

The authors declare that they have no conflict of interest related to the content of this article.

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