Publications

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164), […]

We read with interest the Article reporting findings of the KIWE trial,1 which compared the ketogenic diet with antiseizure medications in infants with drug-resistant epilepsy. The trial did not show a significant difference between diet and medication in terms of efficacy and tolerability; however, we wish to highlight several concerns.