Angelman Syndrome
By: Catherine Joachin What is Angelman syndrome? Angelman syndrome (AS) is a genetic condition characterized by developmental delays, underdeveloped speech, ataxia, and seizures (Cleveland Clinic., n.d.). It affects around 500,000 people globally and emerges as a result of UBE3A dysfunction (Angelman Syndrome Foundation, n.d.). The condition was first described by Dr. Harry Angelman in 1965 […]
Epilepsy and Major Depressive Disorder
By: Natalie Bailey Epilepsy and Major Depressive Disorder When compared to the general population, there is a discernible increase in the prevalence of depression among individuals with epilepsy. Major Depressive Disorder (MDD) is classified as a mood disorder distinguishable by recurrent depressive episodes, feelings of worthlessness, the absence of pleasure, thoughts of death, and abnormal […]
Epilepsy Emergency Considerations
By: John Paisley A Glance in the ER In an emergency situation, distinguishing between epileptic seizures and nonepileptic seizures poses a significant challenge for healthcare personnel (Lehn et al., 2021). Patients in the pre-ictal stage (warning signs a seizure may occur are present) are able to aid healthcare staff in obtaining important medical information necessary […]
GRIN2A Genetic Mutation and Epilepsy
By: Shree Rath Gene Function: The GRIN2A gene is situated on the short arm of chromosome 16. It encodes the GluN2A subunit of the N-methyl-D-aspartate (NMDA) receptor, a critical component in synaptic transmission within the central nervous system. The NMDA receptor, essential for learning and memory processes, relies on the precise functioning of the GluN2A […]