Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of -Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Pathogenic variants in the and genes are associated with impairment of mitochondrial trifunctional protein. Mitochondrial trifunctional protein deficiency is a disorder of long-chain fatty acid oxidation with different clinical presentations: the neonatal-onset form expressing with severe cardiac phenotype, the infantile-onset form with intermediate hepatic phenotype with metabolic crises, and the late-onset form with mild neuromyopathic phenotype. Long-term complications in patients with the intermediate and late-onset phenotypes include peripheral neuropathy and retinopathy.

Co-occurrence of childhood absence epilepsy and self-limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone.

Objective: Some children with Childhood Absence Epilepsy (CAE) exhibit focal abnormalities similar to those observed in Self-Limited Focal Epilepsies of Childhood (SeLFEs). It remains unclear whether this subgroup of patients may present distinct clinical characteristics or prognoses compared to those with CAE and generalized discharges alone. In this study, we retrospectively evaluated the electroclinical features of patients with CAE plus focal abnormalities and compared them with those with CAE lacking focal abnormalities.