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Article

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Clinical genetics - 1 Aug 2025

Abdel-Hamid Mohamed S, Abdel-Ghafar Sherif F, Sayed Inas S M, Zaki Maha S, Abdel-Salam Ghada M H

Abstract excerpt

Cystatin B gene (CSTB) is responsible for the most common childhood onset type of progressive myoclonic epilepsy (EPM1A). More recently, biallelic CSTB variants were described in four patients with a neonatal onset phenotype of microcephaly, diffuse hypomyelination, brain atrophic changes, and dyskinesia. Herein, we describe the clinical and molecular characterization of five additional patients in whom exome...

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Identifiers

PMID: 39966089
DOI: 10.1111/cge.14720

Genes

CSTB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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