ArticleFrontiers in neurology2025
Stroke-like lesion and status epilepticus in a child with
Article in Frontiers in neurology, 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
Introduction: The Methods: Clinical data, laboratory tests, neuroimaging, and disease course of the proband were reviewed. Whole-exome sequencing (WES) and copy-number variation (CNV) analysis were performed to identify causative variants in Results: The proband, a 9-month-old girl, presented with status epilepticus, global developmental delay, increased muscle tone, elevated serum lactate and myocardial enzyme levels. Brain magnetic resonance imaging (MRI) revealed a focal cerebral lesion consistent with a metabolic or stroke-like infarction, as well as delayed myelination. WES identified compound heterozygous Discussion: Review of previously reported
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