Epilepsy is a neurological condition that affects millions of people worldwide, characterised by recurrent seizures. These seizures result from abnormal electrical activity in the brain, which can arise from a variety of underlying causes, including genetic mutations, brain injuries, or infections.
One of the critical contributors to the development of epilepsy is ion channel dysfunction and on Epilepsy Awareness Day, here we focus on a selection of ion channels that can be involved. Understanding the specific role of ion channels in epilepsy helps us develop targeted therapies and can improve diagnostic accuracy. This article will explore the diversity of ion channels involved in epilepsy by highlighting specific examples across the ion channel family, and describe how mutations in these channels contribute to the onset and progression of epileptic seizures.
The SCN1A gene encodes a voltage-gated sodium channel subunit, which plays an essential role in the generation and propagation of action potentials in neurons. Mutations in SCN1A are a major cause of various forms of epilepsy, most notably Dravet syndrome1, a severe form of epilepsy that begins in infancy. SCN1A mutations result in the loss or dysfunction of sodium channels, impairing the excitability of neurons and contributing to abnormal electrical activity in the brain. This leads to frequent, severe seizures and other neurological symptoms, such as developmental delay and motor impairment. Understanding the role of SCN1A in epilepsy has led to development of more targeted treatments aimed at restoring proper sodium channel function.
KCNQ2 encodes a subunit of the voltage-gated potassium channel, which regulate neuronal excitability, thus repolarising the membrane during action potentials. Mutations in KCNQ2 can cause KCNQ2-related epileptic encephalopathy2, a severe form of epilepsy that typically manifests in the neonatal period. These mutations lead to a loss of function in the potassium channels, impairing the ability of neurons to return to their resting state after firing. As a result, neurons become hyperexcitable, and the brain is more susceptible to seizures. Early diagnosis and intervention are crucial to managing KCNQ2-related epilepsies.
The CLCN4 gene encodes a chloride channel that is crucial for maintaining the balance of chloride ions inside and outside the cell. Mutations in CLCN4 have been associated with epileptic encephalopathy and other forms of epilepsy3, highlighting the importance of chloride homeostasis in preventing excessive neuronal firing. Chloride channels help regulate the inhibitory signals in the brain, and dysfunction in these channels can lead to hyperexcitability and seizure activity. The study of CLCN4 and its role in epilepsy has opened avenues for potential therapeutic interventions aimed at restoring chloride balance.
GABRA6 encodes a subunit of the gamma-aminobutyric acid (GABA) A receptor, which is a major inhibitory neurotransmitter receptor in the brain. Mutations in GABRA6 can lead to epileptic syndromes4, as GABAergic signalling is crucial for preventing excessive neuronal excitation. Dysfunctional GABA receptors result in a reduced inhibitory effect on neurons, contributing to the hyperexcitability that leads to seizures. Targeting the GABAergic system is a common approach in epilepsy treatment, and understanding the role of GABRA6 mutations has important implications for developing more effective therapies.
Metrion offers the unique combination of highly experienced ion channel scientists and cutting-edge ion channel screening platforms, enabling studies on specific ion channels and their involvement in epilepsies.
By generating custom cell lines carrying specific mutations, developing high-throughput screening assays and accessing compound libraries, we can help you identify therapies that could restore ion channel function and improve patient outcomes. Explore our specialist neuroscience services and discover how we can help drive your project forward.
Contact us to discover how we can help drive your project forward.
Epilepsy is a neurological condition that affects millions of people worldwide, characterised by recurrent seizures. These seizures result from abnormal electrical activity in the brain, which can arise from a variety of underlying causes, including genetic mutations, brain injuries, or infections.
One of the critical contributors to the development of epilepsy is ion channel dysfunction and on Epilepsy Awareness Day, here we focus on a selection of ion channels that can be involved. Understanding the specific role of ion channels in epilepsy helps us develop targeted therapies and can improve diagnostic accuracy. This article will explore the diversity of ion channels involved in epilepsy by highlighting specific examples across the ion channel family, and describe how mutations in these channels contribute to the onset and progression of epileptic seizures.
The SCN1A gene encodes a voltage-gated sodium channel subunit, which plays an essential role in the generation and propagation of action potentials in neurons. Mutations in SCN1A are a major cause of various forms of epilepsy, most notably Dravet syndrome1, a severe form of epilepsy that begins in infancy. SCN1A mutations result in the loss or dysfunction of sodium channels, impairing the excitability of neurons and contributing to abnormal electrical activity in the brain. This leads to frequent, severe seizures and other neurological symptoms, such as developmental delay and motor impairment. Understanding the role of SCN1A in epilepsy has led to development of more targeted treatments aimed at restoring proper sodium channel function.
KCNQ2 encodes a subunit of the voltage-gated potassium channel, which regulate neuronal excitability, thus repolarising the membrane during action potentials. Mutations in KCNQ2 can cause KCNQ2-related epileptic encephalopathy2, a severe form of epilepsy that typically manifests in the neonatal period. These mutations lead to a loss of function in the potassium channels, impairing the ability of neurons to return to their resting state after firing. As a result, neurons become hyperexcitable, and the brain is more susceptible to seizures. Early diagnosis and intervention are crucial to managing KCNQ2-related epilepsies.
The CLCN4 gene encodes a chloride channel that is crucial for maintaining the balance of chloride ions inside and outside the cell. Mutations in CLCN4 have been associated with epileptic encephalopathy and other forms of epilepsy3, highlighting the importance of chloride homeostasis in preventing excessive neuronal firing. Chloride channels help regulate the inhibitory signals in the brain, and dysfunction in these channels can lead to hyperexcitability and seizure activity. The study of CLCN4 and its role in epilepsy has opened avenues for potential therapeutic interventions aimed at restoring chloride balance.
GABRA6 encodes a subunit of the gamma-aminobutyric acid (GABA) A receptor, which is a major inhibitory neurotransmitter receptor in the brain. Mutations in GABRA6 can lead to epileptic syndromes4, as GABAergic signalling is crucial for preventing excessive neuronal excitation. Dysfunctional GABA receptors result in a reduced inhibitory effect on neurons, contributing to the hyperexcitability that leads to seizures. Targeting the GABAergic system is a common approach in epilepsy treatment, and understanding the role of GABRA6 mutations has important implications for developing more effective therapies.
Metrion offers the unique combination of highly experienced ion channel scientists and cutting-edge ion channel screening platforms, enabling studies on specific ion channels and their involvement in epilepsies.
By generating custom cell lines carrying specific mutations, developing high-throughput screening assays and accessing compound libraries, we can help you identify therapies that could restore ion channel function and improve patient outcomes. Explore our specialist neuroscience services and discover how we can help drive your project forward.
Contact us to discover how we can help drive your project forward.
Epilepsy is a neurological condition that affects millions of people worldwide, characterised by recurrent seizures. These seizures result from abnormal electrical activity in the brain, which can arise from a variety of underlying causes, including genetic mutations, brain injuries, or infections.
One of the critical contributors to the development of epilepsy is ion channel dysfunction and on Epilepsy Awareness Day, here we focus on a selection of ion channels that can be involved. Understanding the specific role of ion channels in epilepsy helps us develop targeted therapies and can improve diagnostic accuracy. This article will explore the diversity of ion channels involved in epilepsy by highlighting specific examples across the ion channel family, and describe how mutations in these channels contribute to the onset and progression of epileptic seizures.
The SCN1A gene encodes a voltage-gated sodium channel subunit, which plays an essential role in the generation and propagation of action potentials in neurons. Mutations in SCN1A are a major cause of various forms of epilepsy, most notably Dravet syndrome1, a severe form of epilepsy that begins in infancy. SCN1A mutations result in the loss or dysfunction of sodium channels, impairing the excitability of neurons and contributing to abnormal electrical activity in the brain. This leads to frequent, severe seizures and other neurological symptoms, such as developmental delay and motor impairment. Understanding the role of SCN1A in epilepsy has led to development of more targeted treatments aimed at restoring proper sodium channel function.
KCNQ2 encodes a subunit of the voltage-gated potassium channel, which regulate neuronal excitability, thus repolarising the membrane during action potentials. Mutations in KCNQ2 can cause KCNQ2-related epileptic encephalopathy2, a severe form of epilepsy that typically manifests in the neonatal period. These mutations lead to a loss of function in the potassium channels, impairing the ability of neurons to return to their resting state after firing. As a result, neurons become hyperexcitable, and the brain is more susceptible to seizures. Early diagnosis and intervention are crucial to managing KCNQ2-related epilepsies.
The CLCN4 gene encodes a chloride channel that is crucial for maintaining the balance of chloride ions inside and outside the cell. Mutations in CLCN4 have been associated with epileptic encephalopathy and other forms of epilepsy3, highlighting the importance of chloride homeostasis in preventing excessive neuronal firing. Chloride channels help regulate the inhibitory signals in the brain, and dysfunction in these channels can lead to hyperexcitability and seizure activity. The study of CLCN4 and its role in epilepsy has opened avenues for potential therapeutic interventions aimed at restoring chloride balance.
GABRA6 encodes a subunit of the gamma-aminobutyric acid (GABA) A receptor, which is a major inhibitory neurotransmitter receptor in the brain. Mutations in GABRA6 can lead to epileptic syndromes4, as GABAergic signalling is crucial for preventing excessive neuronal excitation. Dysfunctional GABA receptors result in a reduced inhibitory effect on neurons, contributing to the hyperexcitability that leads to seizures. Targeting the GABAergic system is a common approach in epilepsy treatment, and understanding the role of GABRA6 mutations has important implications for developing more effective therapies.
Metrion offers the unique combination of highly experienced ion channel scientists and cutting-edge ion channel screening platforms, enabling studies on specific ion channels and their involvement in epilepsies.
By generating custom cell lines carrying specific mutations, developing high-throughput screening assays and accessing compound libraries, we can help you identify therapies that could restore ion channel function and improve patient outcomes. Explore our specialist neuroscience services and discover how we can help drive your project forward.
Contact us to discover how we can help drive your project forward.