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Article

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges.

Journal of child neurology - 1 Mar 2026

Bdair Mohammad, Hajjeh Orabi, Takhman Muhammad, Abukhalil Maram M, Milhem Fathi, Abushama Ahmed J

Abstract excerpt

Developmental epileptic encephalopathy (DEE) in children presents significant diagnostic and management challenges. Advances in whole-exome sequencing (WES) have enabled the identification of rare genetic variants, offering new insights into these complex conditions. Here, we report a 2.5-year-old girl with refractory epilepsy and DEE, in whom WES revealed a novel homozygous SULT4A1 splice-site variant. Although...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40879433
DOI: 10.1177/08830738251369139

Genes

SULT4A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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