Abstract of “Contributions to the Relationship Between Circadian Rhythm Protein Dysfunction and Epilepsy—CLOCK and the PAR bZIP Transcription Factors” by Luis Antonio Goicouria, Ph.D., Brown …
Absent, small, or homeotic-like (ASH1L) is a highly penetrant neurodevelopmental disease (NDD)-associated gene. Despite the clear link between ASH1L mutations and NDD, ASH1L-related NDD is …
Mutations in the SLC13A5 gene, which encodes a plasma membrane citrate transporter, result in developmental epileptic encephalopathy (DEE25), a disorder characterized by infantile multi-focal seizures, …
Epilepsy is a complex neurological disorder characterized by recurrent seizures, affecting millions worldwide. Understanding the molecular mechanisms underlying epilepsy pathogenesis is crucial for developing effective …