About this Research Topic
The present Topic will focus on both basic research and clinical pathological aspects of epilepsy in neurodevelopmental disorders.
The correlation between the processes of epileptogenesis and brain development alterations is extremely tight and also in this case, as in many other relevant scientific questions, it shows itself as a “chicken and egg matter”, as it is very difficult to tell which comes first and how exactly the two variables entwine with one another.
Indeed, many dysfunctions that are considered a cause of epilepsy and occur in the early life are also associated to some kind of cognitive alteration reported by the patients (O'Reilly et al., 2018). Some glaring examples are found in the spectrum of pathologies caused by sodium and potassium channel genetic dysfunctions. As an example, a mutation in the SCN1A gene causes a spectrum of conditions (Catterall, 2014) ranging from febrile seizures to severe epileptic encephalopathies, as Dravet syndrome, and in these latter cases, it involves almost invariably a certain degree of cognitive impairment.
The fascinating question that rises from these notions is whether it could be possible to prevent the epileptogenesis and the cognitive alterations that appear in the patients by somehow “correcting” the physiological processes that fail during the pathologic neurodevelopment.
Some promising results have already been demonstrated both in the basic and, at a lesser extent, clinical setting. Namely, it appears very likely that some alterations of neurotransmission that are frequently present in neurodevelopmental diseases are due to an apparent failure of the synaptic structure maturation (Kilb, 2012; Dulac et al., 2013; Represa and Ben Ari, 2005).
Furthermore, interesting perspectives lie in the results of some studies where it has been demonstrated, in animal models and at a cellular level, that the correction of key neurotransmitter receptor function at early stages can prevent, at least partially, the consequences of genetic conditions that impair neural development (Deidda et al., 2015, Tang et al., 2016).
Last, but not least, clinical trials are now beginning to test compounds that act on particular mediators neurotransmission (as GABAA or glutamate receptors) with the aim to prevent or mitigate both epileptic seizures and cognitive impairment acting as “development-specific” agents (Jozwiak et al., 2017).
The objective of this Research Topic is to collect relevant contributions, from both basic and clinical scientists, and tackle this topics with a multidisciplinary approach that could shed light on the physio-pathological mechanisms governing developmental epilepsies and also underline the direct clinical consequences of the aforementioned phenomena.
This topic has been realized in collaboration with Dr. Gabriele Ruffolo, Post Doctoral Researcher at the University of Rome (Sapienza) (ORCID ID: 0000-0002-6554-5496).
The correlation between the processes of epileptogenesis and brain development alterations is extremely tight and also in this case, as in many other relevant scientific questions, it shows itself as a “chicken and egg matter”, as it is very difficult to tell which comes first and how exactly the two variables entwine with one another.
Indeed, many dysfunctions that are considered a cause of epilepsy and occur in the early life are also associated to some kind of cognitive alteration reported by the patients (O'Reilly et al., 2018). Some glaring examples are found in the spectrum of pathologies caused by sodium and potassium channel genetic dysfunctions. As an example, a mutation in the SCN1A gene causes a spectrum of conditions (Catterall, 2014) ranging from febrile seizures to severe epileptic encephalopathies, as Dravet syndrome, and in these latter cases, it involves almost invariably a certain degree of cognitive impairment.
The fascinating question that rises from these notions is whether it could be possible to prevent the epileptogenesis and the cognitive alterations that appear in the patients by somehow “correcting” the physiological processes that fail during the pathologic neurodevelopment.
Some promising results have already been demonstrated both in the basic and, at a lesser extent, clinical setting. Namely, it appears very likely that some alterations of neurotransmission that are frequently present in neurodevelopmental diseases are due to an apparent failure of the synaptic structure maturation (Kilb, 2012; Dulac et al., 2013; Represa and Ben Ari, 2005).
Furthermore, interesting perspectives lie in the results of some studies where it has been demonstrated, in animal models and at a cellular level, that the correction of key neurotransmitter receptor function at early stages can prevent, at least partially, the consequences of genetic conditions that impair neural development (Deidda et al., 2015, Tang et al., 2016).
Last, but not least, clinical trials are now beginning to test compounds that act on particular mediators neurotransmission (as GABAA or glutamate receptors) with the aim to prevent or mitigate both epileptic seizures and cognitive impairment acting as “development-specific” agents (Jozwiak et al., 2017).
The objective of this Research Topic is to collect relevant contributions, from both basic and clinical scientists, and tackle this topics with a multidisciplinary approach that could shed light on the physio-pathological mechanisms governing developmental epilepsies and also underline the direct clinical consequences of the aforementioned phenomena.
This topic has been realized in collaboration with Dr. Gabriele Ruffolo, Post Doctoral Researcher at the University of Rome (Sapienza) (ORCID ID: 0000-0002-6554-5496).
Keywords: Epilepsy, Neurodevelopment, Electrophysiology, Neuropathology
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