Phenotyping juvenile myoclonic epilepsy. Praxis induction as a biomarker of unfavorable prognosis

Abstract

PI reflex trait in JME is related to seizures without preferential circadian occurrence and reduced response to antiepileptic drugs.

Cognitive performance in juvenile myoclonic epilepsy patients with specific endophenotypes

“…In this series, male gender prevailed in group 2 confirming findings of all other published series on praxis induction in epilepsy, at ratios of 3:1 [42], 2.3:1 [43], and 1.5:1 in one of our articles [44]. A higher educational level was observed in patients without reflex traits, probably reflecting a minor impact in quality of life, since all these patients had similar socio-economic backgrounds.…”

“…Clonazepam use prevailed in the latter, since this AED, besides valproate and zonisamide, has been considered relatively effective in patients with overexpression of reflex traits [45]. For some, valproate [46] and levetiracetam [47] have been considered effective in the treatment of eyelid and photosensitivity, although difficulties in seizure control in JME patients with reflex traits have been emphasized in literature [18,44]. A recent series from Turkey has focused on prognosis of 20 patients with eyelid and massive limb myoclonia, absences and GTCS, in a context similar to those of GGE with adolescence onset, who had been treated with several combinations of valproate, clonazepam, lamotrigine and levetiracetam.…”

“…Praxis induction significantly affects the quality of life of JME patients in terms of professional and leisure activities. The presence of myoclonia constantly threat patients with praxis induction in their daily activities, which might contribute for their generalized anxiety disorder [44]. However, common pathophysiological mechanisms of psychiatric disorders and JME, both related to dysfunction in fronto-thalamic circuits, might be an alternative explanation.…”

Juvenile myoclonic epilepsy as a spectrum disorder: A focused review

“…In terms of diurnal pattern, Janz emphasized that both myocloni and GTCS typically appear on awakening, and cortical excitability measured by transcranial magnetic stimulation (TMS) increases early in the morning in patients with JME, which could explain increased seizure susceptibility at this time of day [25]. However, this diurnal pattern is not present in all cases and was absent in cases with praxis induction (PI) where, remarkably, it was correlated with drug-resistance [26].…”

“…This scale seems to be particularly useful to explain severity given that the patients with PI represent the most drug-resistant subtype of JME [26].…”