Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in <scp> <i>PIGM</i> </scp>

Our findings establish PIGM as a causative gene of early-onset developmental and epileptic encephalopathy and expand the clinical and radiological spectrum of PIGM deficiency to include hypomyelination and prenatal onset. This study underscores the importance of including PIGM in the differential diagnosis of developmental and epileptic encephalopathy and leukoencephalopathies and provides further insight into the molecular mechanisms underlying phenotypic variability of GPI-anchor disorders.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2026-03-04
DOI
https://doi.org/10.1002/acn3.70341
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Bárbara Masotto, Yasmina Elaribi, Alfons Macaya, Marta Codina et al.
Annals of Clinical and Translational Neurology
Genomics and Rare Diseases
article

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Bárbara Masotto, Yasmina Elaribi, Alfons Macaya, Marta Codina, Mónica Martínez-Gallo, Angel Sanchez-Montanez, Roger Colobran, Júlia Sala-Coromina, Lamia BenJemaa, Yoshiko Murakami, Anna Marcé-Grau
article en

Abstract

Our findings establish PIGM as a causative gene of early-onset developmental and epileptic encephalopathy and expand the clinical and radiological spectrum of PIGM deficiency to include hypomyelination and prenatal onset. This study underscores the importance of including PIGM in the differential diagnosis of developmental and epileptic encephalopathy and leukoencephalopathies and provides further insight into the molecular mechanisms underlying phenotypic variability of GPI-anchor disorders.

Annals of Clinical and Translational Neurology
Hebron University (PS), Universitat Autònoma de Barcelona (ES), Vall d'Hebron Institut de Recerca (ES), Hôpital Mongi Slim (TN), Vall d'Hebron Hospital Universitari (ES), The University of Osaka (JP)
Openalex Percentile: Top 33%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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