Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

Isolated Agenesis of the Corpus Callosum in a Four-Year-Old: A Case of Preserved Cognitive Function Despite Complete Corpus Callosum Absence.

Agenesis of the corpus callosum (AgCC) is a rare congenital brain anomaly characterized by the partial or complete absence of the corpus callosum, a crucial structure responsible for interhemispheric communication. Neurological outcomes associated with AgCC vary widely, with presentation ranging from severe intellectual disabilities to normal cognitive function. The condition is often discovered incidentally due to the variability in its clinical presentation.

Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review.

Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is essential to avoid any brain damage.

Pediatric Neurology Workforce in Saudi Arabia: A 5-Year Update.

Background: The medical workforce plays a pivotal role in advancing human health, particularly within the healthcare system of Saudi Arabia. While government-employed healthcare providers form the central structure of the system and offer free healthcare services, the private healthcare sector is also witnessing significant growth. In parallel, the field of child neurology has experienced notable transformations in recent years, with continued expansion.