京都大学iPS細胞研究所 増殖分化機構研究部門 幹細胞医学分野

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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

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