HCN1 Gene Mutation and Epilepsy

By:  Shree Rath HCN1: The gene and protein The HCN1 gene, also known as potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel, is a gene that encodes a protein involved in ion channel activity in neurons, exhibiting weak selectivity for potassium over sodium ions. It contributes to the native pacemaker currents in heart and in neurons. It may […]

SPTAN1 Genetic Mutation and Epilepsy

By:  Clara O’Hara SPTAN1 SPTAN 1 is a spectrin (a family of proteins playing a crucial part in the cell membrane) that provides instructions for making a cytoskeletal protein called alpha-II spectrin, which surfaces on the plasma membrane of eukaryotic cells. It is abundant in the brain and plays a crucial role in the formation […]

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 […]

SCN1A Genetic Mutation and Epilepsy

By:  Shree Rath SCN1A gene function: SCN1A, or sodium channel protein type 1 subunit alpha, mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming open or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na (+) ions may pass in accordance with their […]

PCDH19 Genetic Mutation and Epilepsy

By: Andrew Yee PCDH19 Epilepsy PCDH19-epilepsy is a type of epilepsy caused by a mutation of the PCDH19 gene on the X chromosome. The PCDH19 gene results in epilepsy by encoding the protein protocadherin 19. PCDH19-epilepsy begins in the first year of life and mainly affects girls. Boys may also be affected, but it is […]

CDKL5 Genetic Mutation and Epilepsy

By: Andrew Yee What Is The CDKL5 Gene? The CDKL5 gene is most active in the brain and codes for a protein found in cells and body tissues. The CDKL5 gene is essential for normal brain development and functioning. The protein that is produced by the gene has five different versions. Studies have shown that […]