Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the  gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).

A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases.

Synthesis of R-GABA Derivatives via Pd(II) Catalyzed Enantioselective C(sp)-H Arylation and Virtual Validation with GABA Receptor for Potential leads.

GABA (γ-amino butyric acid) analogues like baclofen, tolibut, phenibut, etc., are well-known GABA inhibitors and pharmaceutically important drugs. However, there is a huge demand for more chiral GABA aryl analogues with promising pharmacological actions.

Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.

Introduction: The recent evolution of genomics has led to the development of targeted therapeutics, revolutionizing medical approaches. This study aimed to assess the impact of genetic testing on the current epilepsy management paradigm with a specific focus on the variability of outcomes subsequent to genetic diagnoses.

Methodology: Data were collected retrospectively from a cohort of children aged 1-18 years, diagnosed with refractory epilepsy of confirmed genetic origin.

Knowledge, Attitude, and Practice of epilepsy in Wayanad, Kerala.

Objective: Epilepsy is a common neurological condition characterized by recurrent seizures. The aim of the study was to assess the level of Knowledge, Attitude, and Practices (KAP) in epilepsy in the district of Wayanad.

Methods: This study was conducted among adults residing in Wayanad.