The Relationship between Paroxysmal Kinesigenic Choreoathetosis and Epilepsy

Abstract

It appears that patients who suffer from both PKC and epilepsy have a functional abnormality of the cerebral cortex, particularly in the perirolandic and frontal regions.

Localization and Mutation Detection for Paroxysmal Kinesigenic Choreoathetosis

“…Clinically, paroxysmal dyskinesias display common features with other paroxysmal central nervous system disorders considered to be disorders of ion channels, thus suggesting a common pathophysiologic mechanism: episodic attacks on a normal interictal background and similar precipitating causes. Moreover, all these paroxysmal disorders exhibit analogies and associations between them, also in the same family (Ohmori et al 2002;Margari et al 2005). As low doses of carbamazepine are highly effective in PKC, and it acts by inhibiting the excitability of cellular membranes through inactivating the sodium channel (Wein et al 1996), a mutation of an ion-channel gene is suspected to underlie PKC.…”

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies

“…However, increased understanding of the genetics underpinnings of epilepsy syndromes and PxDs have provided insights into the shared mechanisms of these two conditions, revealing the role of ion channels, and of proteins associated to the vesical synaptic cycle or involved in energy metabolism (figure 3) [14,31,36,38,43,53,70–72]. Nevertheless, there remains controversy about the extent to which paroxysmal movement disorder may have epileptic components, as variably measured by video-EEG monitoring [9,73–75], recognizing that abnormally organized electrical activity of subcortical structures (“subcortical seizures”) may not be readily recorded with scalp electrodes. In general, a clear differentiation between the pathophysiology of purely subcortical and cortical events risks to be an oversimplification due to the strong reciprocal interconnectivity between basal ganglia and cerebral cortex, particularly within the fronto-striatal network, as well as the differential age-related expression of dysfunction in these structures.…”

Paroxysmal dyskinesias

“…The brief, stereotyped nature and the dramatic response to anticonvulsants argue for an epileptic origin 13. However, EEG studies and sleep EEGs fail to show typical ictal or interictal changes14 with few exceptions 15–17. Thus, some suggest a subcortical origin of the epileptogenic source, in the basal ganglia 16…”