Publications by authors named "Arun Y Bylappa"
Article Synopsis
- The study focused on KCTD7-related progressive myoclonic epilepsy (PME), a rare genetic disorder, and aimed to provide detailed clinical and genetic insights from a large international group of patients.
- It included 42 patients from 36 families, finding that myoclonic seizures often began by 14 months of age, with various EEG and MRI findings, and a significant portion showed delayed development and progressive regression.
- The research also highlighted previous cases and found that out of 21 patients with genetic testing, some had known mutations while others had novel variants, underscoring the variety in clinical manifestations and severity of the disorder.
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regression of milestones following chicken pox. Investigations showed elevated lactate, white matter signal changes in both periventricular and subcortical white matter with frontal predominance in the MRI of the brain, cardiomyopathy in the echocardiography, with complex I deficiency in respiratory enzyme assay in the muscle biopsy.
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