Publications by authors named "Akbar Mohamed Chettali"
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.
Primary Amoebic meningoencephalitis is a rare and fatal neuro-infection caused by free-living fresh-water amoeba . It is a ubiquitous organism and the infection occurs usually via contact with warm water-bodies. The clinical presentation is often indistinguishable from acute bacterial meningitis and the diagnosis can be made by CSF wet smear examination if there is a high index of suspicion.
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