Year: 2025
Type: article
Study design: Case Report
Abstract: We report a five-month-old male infant of Lebanese descent who presented with infantile spasms, axial hypotonia, and a distinctive facial gestalt. Whole exome sequencing (WES) identified a heterozygous pathogenic variant (c.460G>A; p.Gly154Ser) in the KCNJ6 gene, confirming a diagnosis of Keppen-Lubinsky Syndrome (KPLBS). This case underscores the utility of WES in diagnosing rare dysmorphic syndromes, discusses the therapeutic challenges of channelopathy-related epilepsy, and outlines the guarded prognosis associated with KPLBS.
Source: Cureus
DOI: 10.7759/cureus.98872
Author: Hadi Fakih
Institution: Lebanese University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4417190075