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The dentato-rubro-pallido-luysian atrophy (DRPLA) disorder was predominantly seen in the Japanese population. DRPLA is an autosomal dominant neurodegenerative disorder caused by abnormal repeat expansions within the DRPLA gene located on chromosome 12p13.31. Ataxia, choreoathetosis, and/or myoclonus and mental decline are the cardinal signs. Epileptic seizures usually occur in patients with an earlier onset. Unstable expanded CAG repeats in one allele in the DRPLA gene are responsible for this disorder and the size of the CAG expansion is well correlated with age of onset and severity of the disease. There are characteristic degeneration of both the dentato-rubral and pallido-luysian systems in the brain. Diffferential diagnosis includes all types of progressive myoclonic epilepsies, hereditary ataxia, and Huntington chorea. An autosomal dominant hereditary pattern and anticipation from the paternal side make the diagnosis more likely. However, a definitive diagnosis is based on genetic testing.
Epilepsy is a disease of the brain characterized by recurring unprovoked epileptic seizures, caused by a transient abnormality of neuronal activity which results in synchronized electrical discharges of neurons within the central nervous system (CNS). This chapter focuses on the most important characteristics of voltage- and ligand-gated ion channels, their role in determining neuronal excitability, and the impact of some reported mutations on epileptogenesis in idiopathic epilepsies. It describes the importance of the thalamocortical loop and thalamic ion channels for the generation of generalized seizures. The binding of transmitters and the coupling to channel opening are complex processes which can consequently be influenced by amino acid changes in many different regions of these channels. Most anticonvulsant drugs that are in clinical use today act by modulating the function of ion channels and the chapter describes how ion channel function can be altered by genetic defects associated with idiopathic epilepsies.
Age at the first psychotic episode and an interval between the onset of
epilepsy and that of psychosis reflect developmental processes of
interictal psychosis. However, factors relating to these indices remain
To identify clinical variables that are associated with the timing of the
development of interictal psychosis.
In 285 adults with epilepsy with interictal psychosis, effects of
epileptic (epilepsy type), organic (intellectual functioning) and genetic
(family history of psychosis) variables on timing of the development of
psychosis were examined.
The mean interval between the onset of epilepsy and that of psychosis was
14.4 years. Some psychosis occurred within a few years of the first
seizure. Generalised epilepsy, normal intellectual function and a
positive family history of psychosis were associated with early onset of
Early development of interictal psychosis in people with epilepsy may
reflect other individual vulnerabilities to psychosis rather than
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