Epilepsy
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Overview
Epilepsy is a disorder of the nervous system that is caused by the abnormal activity of neurons in the brain, and it presents a broad spectrum of symptoms.
Characteristics
Symptoms of epilepsy vary depending on the individual and the disease type.
The functional pathomechanisms of epilepsy have been investigated using clinical methods such as electroencephalography and functional brain imaging, specimens from human temporal lobe epilepsy surgery, and animal models of epilepsy.
In the case of epileptic seizures, the mechanism of the abnormal discharge is classically understood to be an imbalance between excitatory and inhibitory neurotransmissions.
Research status
Genetic mutations in ion channels have been identified in many cases of familial epilepsy.
Therefore, cellular or animal models have been generated to target the functional molecules involved in neuronal excitability and neurotransmission.
In vitro studies of diseases with abnormal electrophysiological activity, such as epilepsy, require functional analysis of ion channels and excitatory and inhibitory signaling proteins.
Following signal transmission through ion channels, functional activities occur, such as nerve signal transmissions and muscle contractions.
Neuronal cells derived from iPS cells possess ion channels, and analysis of their electrical activity is being conducted to investigate the pathological mechanisms and discover therapeutic agents.
Clone name | Name of disease | Age at time of collection | Sex | Somatic cell | Clinical information | |
---|---|---|---|---|---|---|
EPI22EL1 | tuberous sclerosis | 31 | F | PBMC | ‐ | view details |
EPI27EL2 | tuberous sclerosis | 33 | F | PBMC | ‐ | view details |
EPI9EL2 | Angelman syndrome | 36 | F | PBMC | ‐ | view details |
EPI11EL5/HPS1728 | drug-induced epilepsy | 30s | M | PBMC | ‐ | view details |
EPI8EL2 | Fukuyama congenital muscular dystrophy (FCMD) | 20 | M | PBMC | ‐ | view details |
EPI23EL4 | Fukuyama congenital muscular dystrophy (FCMD) | 14 | F | PBMC | ‐ | view details |
EPI10EL2 | Fukuyama congenital muscular dystrophy (FCMD) | 42 | F | PBMC | ‐ | view details |
EPI3 1-1 | Hereditary dystonia | 15 | M | PBMC | ‐ | view details |
EPI4EL1 | Maple syrup urine disease | 29 | M | PBMC | ‐ | view details |
EPI19EL1 | Vanishing white matter disease | 22 | M | PBMC | ‐ | view details |