ArticleTranslational pediatrics2025
Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review.
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Congenital nephrotic syndrome (CNS) is a rare renal disorder in infants, characterized by significant proteinuria, hypoalbuminemia, edema, and hyperlipidemia, while neurological manifestations are uncommon. Pleckstrin homology and RhoGEF domain containing G2 ( Case Description: We report a male infant with CNS who experienced jerky myoclonus and partial seizures since the neonatal period. Electroencephalography (EEG) revealed lateralized periodic discharges (LPDs), characterized by a triphasic wave pattern. Whole exome sequencing identified two heterozygous variants in the Conclusions: Our case highlights the link between
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