Answers are grounded in this paper and cite their sources.
Case report analyzes lipofuscin in dysmorphic neurons in focal epilepsy, suggesting new insights into genotypes.
Summary We describe the case of a 29‐year‐old woman with focal drug‐resistant epilepsy and an unusual Focal Cortical Dysplasia (FCD) IIa with lipofuscin accumulation in dysmorphic neurons. We discuss the commonalities and discrepancies between the present case and FCDIIa cases without lipofuscin accumulation at the clinical, histopathological and proteomic levels. We believe that extending the description of these rare cases will allow the collection of better genotype–phenotype correlations to decipher this FCDIIa variant.
No takes yet. Share an insight, caveat, or question.
Garbelli et al. (2026) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: