Exploring the maturation of the GABA shift as a diverging mechanism in SCN1A-related epilepsy using patient iPSC-derived neurons
Nikki Kolsters, Eline van Hugte, Ka Man Wu, Chantal Bijnagte-Schoenmaker, Nicky Scheefhals, Nael Nadif Kasri · FENS Forum 2024
Mutations in the sodium channel NaV1.1, encoded by SCN1A, are associated with a range of epileptic disorders in which febrile seizures with varying rates of severity are involved, such as Dravet syndrome (DS), generalised epilepsy with febrile seizures plus (GEFS+) and familial febrile seizures (FS). It is thought that NaV1.1 deficiency leads to a reduction in firing of GABAergic inhibitory interneurons which causes an imbalance between excitation and inhibition, resulting in a hyperactive network. Alternatively, a hyperactive network can also result from an increase in excitatory signalling,
ePoster · Neuroscience