PP165—Evaluation of JNJ-26489112, a Novel Antiepileptic Drug: A Placebo-Controlled, Exploratory Study

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Juvenile myoclonic epilepsy presenting as a new daily persistent-like headache

New daily persistent headache (NDPH) is a recognized subtype of chronic daily headache with a unique presentation of a daily headache from onset typically in individuals with minimal or no prior headache history. Various secondary mimics of NDPH have now been documented but at present there has been no association made between primary epilepsy syndromes and new daily persistent-like headaches. A case patient is presented who developed a daily continuous headache from onset who 3 months after headache initiation had her first generalized tonic-clonic seizure. Further investigation into her history and her specific EEG pattern suggested a diagnosis of juvenile myoclonic epilepsy (JME). Her NDPH and seizures ceased with epilepsy treatment. Clinically relevant was that the headache was the primary persistent clinical symptom of her JME before the onset of generalized tonic-clonic seizures. The current case report adds another possible secondary cause of new daily persistent-like headaches to the medical literature and suggests another association between primary epilepsy syndromes and distinct headache syndromes

Migralepsy, hemicrania epileptica, post-ictal headache and “ictal epileptic headache”: a proposal for terminology and classification revision

Despite the fact that migraine and epilepsy are among the commoner brain diseases and that comorbidity of these conditions is well known, only few reports of migralepsy and hemicrania epileptica (HE) have been published according to the current ICHD-II criteria. Particularly, ICHD-II describes “migraine-triggered seizure” (i.e., migralepsy) among complications of migraine at “1.5.5” (as a rare event in which a seizure happens during migrainous aura), while hemicrania epileptica (coded at “7.6.1”) and post-ictal headache (coded at “7.6.2”) are described among headaches attributed to epileptic seizure. However, to date neither the International Headache Society nor the International League against Epilepsy mention that headache/migraine may be the sole ictal epileptic manifestation. Based on the current knowledge, migralepsy is highly unlikely to exist as such. We, therefore, propose to delete this term until clear evidence its existence is provided. Moreover, we herein propose a revision of terminology and classification criteria to properly represent the migraine/headache relationships. We suggest the term “ictal epileptic headache” in cases in which headache/migraine is the sole ictal epileptic manifestation

Rare coding variants in genes encoding GABA_A receptors in genetic generalised epilepsies: an exome-based case-control study

BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. METHODS: For this exome-based case-control study, we used three different genetic generalised epilepsy case cohorts and three independent control cohorts, all of European descent. Cases included in the study were clinically evaluated for genetic generalised epilepsy. Whole-exome sequencing was done for the discovery case cohort, a validation case cohort, and two independent control cohorts. The replication case cohort underwent targeted next-generation sequencing of the 19 known genes encoding subunits of GABAA receptors and was compared to the respective GABAA receptor variants of a third independent control cohort. Functional investigations were done with automated two-microelectrode voltage clamping in Xenopus laevis oocytes. FINDINGS: Statistical comparison of 152 familial index cases with genetic generalised epilepsy in the discovery cohort to 549 ethnically matched controls suggested an enrichment of rare missense (Nonsyn) variants in the ensemble of 19 genes encoding GABAA receptors in cases (odds ratio [OR] 2·40 [95% CI 1·41-4·10]; pNonsyn=0·0014, adjusted pNonsyn=0·019). Enrichment for these genes was validated in a whole-exome sequencing cohort of 357 sporadic and familial genetic generalised epilepsy cases and 1485 independent controls (OR 1·46 [95% CI 1·05-2·03]; pNonsyn=0·0081, adjusted pNonsyn=0·016). Comparison of genes encoding GABAA receptors in the independent replication cohort of 583 familial and sporadic genetic generalised epilepsy index cases, based on candidate-gene panel sequencing, with a third independent control cohort of 635 controls confirmed the overall enrichment of rare missense variants for 15 GABAA receptor genes in cases compared with controls (OR 1·46 [95% CI 1·02-2·08]; pNonsyn=0·013, adjusted pNonsyn=0·027). Functional studies for two selected genes (GABRB2 and GABRA5) showed significant loss-of-function effects with reduced current amplitudes in four of seven tested variants compared with wild-type receptors. INTERPRETATION: Functionally relevant variants in genes encoding GABAA receptor subunits constitute a significant risk factor for genetic generalised epilepsy. Examination of the role of specific gene groups and pathways can disentangle the complex genetic architecture of genetic generalised epilepsy. FUNDING: EuroEPINOMICS (European Science Foundation through national funding organisations), Epicure and EpiPGX (Sixth Framework Programme and Seventh Framework Programme of the European Commission), Research Unit FOR2715 (German Research Foundation and Luxembourg National Research Fund)

Visual stimuli, photosensitivity, and photosensitive epilepsy

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Épilepsie de la télévision: existe-t-elle encore?

In the 1960s, TV was recognized as a trigger of visually induced seizures in photosensitive patients (due especially to the lack of stability of pictures with the old B/W screens, and to the short distance to the screen). Sensitivity to colour TV appeared somewhat later and does not seem to differ from that to B/W screens. The marketing of new, bigger TV screens (LCD, TFT and plasma), with 100 Hz frequency, and variable technical specifications (including colour scales and luminance) should decrease the risk of inducing seizures in photosensitive patients, as the increasingly complex epileptogenic features (colours and patterns) contained in advertisements, programs and games, can be manipulated. However, recent studies have shown the higher sensitivity of younger children to TV images, especially when associated with videogames that imply a greater, active participation. In our modern world, children and teenagers are increasingly exposed to potentially epileptogenic visual stimuli or various origins, and it can be expected that more and younger children will experience seizures in front of their TV in the coming years. Although the visual inducing factor is still TV, it is the association of TV and videogames that accounts for TV-induced seizures

Photosensitivity as an early marker of epileptic and developmental encephalopathies

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Chapter 14 entitled " Migraine and Epilepsy "

Migraine and epilepsy are both characterized by transient attacks of altered brain function with a clinical, pathophysiological and therapeutic overlap [1–9]. Furthermore, epilepsy and migraine may mimic each other. In particular, occipital lobe seizures may be easily misinterpreted as migraine with visual aura [10]. The frequency of epilepsy among people with migraine (range 1–17%) is higher than in the general population (0.5–1%), just as the prevalence of migraine among patients with epilepsy is also higher (range 8–15%) than that reported in healthy individuals [3, 11-16]. Especially in children this comorbidity is found often [17]. Some studies of the association between migraine and specific epilepsy syndromes, such as childhood epilepsy with occipital paroxysms and benign childhood epilepsy with centrotemporal spikes (CTS) were negative [6,18], but others were positive [3, 19-24]. An increase in (usually unspecific) electroencephalographic (EEG) abnormalities in patients suffering from migraine [9], has been considered as evidence of a relationship between migraine and epilepsy [10, 11]. The mechanism underlying the onset of a migraine attack is probably cortical spreading depression (CSD). Unlike epileptiform abnormalities in epilepsy attacks, CSD is not demonstrable in migraine patients which clearly hampers studies addressing the pathophysiological overlap between migraine and epilepsy attacks