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behavioral aspects of epilepsy: principles & practice

BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy. MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyzed with histograms and the Statistical Parametric Mapping 2 (SPM2) software. We employed the non-parametric Mann-Whitney U test to assess differences for ADC and MTR histogram metrics. Voxel by voxel comparison of the ADC and MTR maps was performed with 2 tails t-test corrected for multiple comparison. RESULTS: A significantly higher whole brain ADC value as compared to healthy controls was observed in CEC (P = 0.006) and CD (P = 0.01) patients. SPM2 showed bilateral areas of significantly decreased MTR in the parietal and temporal subcortical white matter (WM) in the CEC patients. CONCLUSION: Our study indicates that diffusion and MT techniques are also capable of revealing abnormalities undetected by MR imaging. In particular patients with CEC syndrome show an increase of the whole brain ADC histogram which is more pronounced than in patients with gluten intolerance. IN CEC patients, voxel-based analysis demonstrates a localized decrease of the MTR in the parieto-temporal subcortical WM.

PURPOSE: Photosensitivity can represent a serious problem in epilepsy patients, also because pharmacologic treatment is often ineffective. Nonpharmacologic treatment using blue sunglasses is effective and safe in controlling photosensitivity, but large series of patients have never been studied. METHODS: This multicenter study was conducted in 12 epilepsy centers in northern, central, southern, and insular Italy. A commercially available lens, named Z1, obtained in a previous trial, was used to test consecutively enrolled pediatric and adult epilepsy patients with photosensitivity. Only type 4 photosensitivity (photoparoxysmal response, PPR) was considered in the study. A standardized method was used for photostimulation. RESULTS: Six hundred ten epilepsy patients were tested. Four hundred (66%) were female patients; 396 (65%) were younger than 14 years. Three hundred eighty-one (62%) subjects were pharmacologically treated at the time of investigation. Z1 lenses made PPR disappear in 463 (75.9%) patients, and PPR was considerably reduced in an additional 109 (17.9%) of them. PPR remained unchanged only in the remaining 38 (6.2%) patients. The response of PPR to Z1 lenses was not significantly influenced by the patients' age, sex, or type of epilepsy. No difference was found between pharmacologically treated and untreated patients. CONCLUSIONS: The Z1 lens is highly effective in controlling PPR in a very large number of photosensitive epilepsy patients irrespective of their epilepsy or antiepileptic drug treatment. The lens might become a valid resource in the daily activity of any clinician who cares for patients with epilepsy.

[corrected] To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE).A personal and family history was obtained from each affected and unaffected member, along with a physical and neurologic examination. Routine and sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations.The seven families included a total of 34 affected individuals (10 deceased). The age at onset ranged between 8 and 50 years (average, 22 years). Twenty-six patients had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Less frequent ictal symptoms were visual, psychic, or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic drug treatment but recurred after drug discontinuation. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T--C substitution in exon 6 at position 598, and a T--A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures.Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease.

There have been anecdotal reports of an association between coeliac disease and epilepsy with cerebral calcifications that resemble those of the Sturge-Weber syndrome. A series of patients who had epilepsy with calcifications, in whom coeliac disease (CD) was incidentally observed, prompted us to study this association. 43 patients (15 male, age range 4·6-30·7 years) were selected from two series. 31 patients with cerebral calcifications of unexplained origin and epilepsy (series A) underwent intestinal biopsy. 12 patients with CD and epilepsy (series B) underwent computed tomography. Antibodies to gluten, folic acid serum concentrations, were measured, and H LA typing was done in most patients. 24 of the series A patients were identified as having CD on the basis of a flat intestinal mucosa (15/22 with a high concentration of serum antigluten), and 5 series B patients showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of these CEC patients, calcifications were located in the parieto-occipital regions. Only 2 of the series A patients had gastrointestinal symptoms at the time of intestinal biopsy; most patients had recurrent diarrhoea, anaemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of "atypical Sturge-Weber syndrome" (characterised by serpiginous cerebral calcifications and epilepsy without facial port-wine naevus) should be reviewed, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin. © 1992.

Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females but only 11 in males have been reported. The syndrome is usually associated with mutations in the doublecortin ( DCX ) (Xq22.3‐q23) gene, and much less frequently in the LIS1 (17p13.3) gene. To determine whether the phenotypic spectrum, the genetic basis and genotype–phenotype correlations of SBH in males are similar to those in females, we compared the clinical, imaging and molecular features in 30 personally evaluated males and 60 previously reported females with SBH. Based on the MRI findings, we defined the following band subtypes: partial, involving one or two cerebral lobes; intermediate, involving two lobes and a portion of a third; diffuse, with substantial involvement of three or more lobes; and pachygyria‐SBH, in which posterior SBH merges with anterior pachygyria. Karyo typing and mutation analysis of DCX and/or LIS1 were performed in 23 and 24 patients, respectively. The range of clinical phenotypes in males with SBH greatly overlapped that in females. MRI studies revealed that some anatomical subtypes of SBH, such as partial and intermediate posterior, pachygyria‐SBH and diffuse bands with posterior predominance, were more frequently or exclusively present in males. Conversely, classical diffuse SBH and diffuse bands with anterior predominance were more frequent in females. Males had either mild or the most severe band subtypes, and these correlated with the over‐representation of normal/borderline intelligence and severe mental retardation, respectively. Conversely, females who had predominantly diffuse bands exhibited mostly mild or moderate mental retardation. Seven patients (29%) had missense mutations in DCX ; in four, these were germline mutations, whereas in three there was evidence for somatic mosaicism. A germline missense mutation of LIS1 and a partial trisomy of chromosome 9p were identified in one patient (4%) each. One male each had a possible pathogenic intronic base change in both DCX and LIS1 genes. Our study shows that SBH in males is a clinically heterogeneous syndrome, mostly occurring sporadically. The clinical spectrum is similar to that of females with SBH. However, the greater cognitive and neuroradiological heterogeneity and the small number of mutations identified to date in the coding sequences of the DCX and LIS1 genes in males differ from the findings in females. This suggests other genetic mechanisms such as mutations in the non‐coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes.

Summary The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases.

This paper investigates the mythical and ritual background of Dionysus’ representation as “fir-bender” in Euripides’ "Bacchae" (ll. 1061 ff.), in an attempt to shed light not only on the dramaturgical aspects of the tragic plot, but also on the cultural categories that make this representation intelligible to the Athenian audience at the end of the fifth century BC. Following Louis Gernet’s historical-anthropological approach based on the notion of "polyvalence des images", this paper aims to define a mythical pattern – the connection between the bending of a tree and the dismemberment of a human victim – already attested in the Attic legend of Theseus and Sinis, in which both characters seem to be ‘specialised’ in bending pine trees. Through a comparative analysis of this mythical dossier it is possible to show how the Euripidean scene of the bending of the fir tree on mount Cithaeron can be interpreted as a tragic resemantisation of mythical ordeals concerning the construction of power and the performance of royal identity in archaic Greece, without necessarily postulating a "passive" reception of the Dionysian imagery or the survival of a remote Frazerian “tree-cult”.

Le stragi di Capaci e via D’Amelio segnano un punto di svolta nel linguaggio con cui i movimenti antimafia costruiscono la memoria pubblica della violenza mafiosa. Uno dei tratti salienti di questa svolta è la proliferazione di luoghi di memoria che ruotano intorno a figure arboree. Il capostipite di questa genealogia è l’albero Falcone, noto come punto di raccolta per le manifestazioni del 23 maggio, la giornata della legalità. Nel corso degli anni ’90, il modello memoriale costruito intorno all’albero si sviluppa e si diffonde, mentre sono sempre già frequenti le piantumazioni di alberi in memoria delle vittime della mafia. L’articolo cerca di esplicitare le forme semiotiche soggiacenti a questa dendrolatria antimafia e ai suoi modi di diffusione nel repertorio celebrativo dell’Italia contemporanea. Tirando le fila di questa ricostruzione, propone infine alcune considerazioni critiche sul rapporto tra memoria e paesaggio, sullo sfondo più generale del rapporto tra natura e cultura nell’epoca dell’Antropocene. The massacres of Capaci and via D'Amelio mark a turning point in the language with which the anti-mafia movements build the public memory of mafia violence. One of the salient features of this turning point is the proliferation of places of memory that revolve around tree figures. The progenitor of this genealogy is the Falcone tree, known as a collection point for the demonstrations of May 23, the day of legality. During the 90s, the memorial model built around the tree developed and spread, while the planting of trees in memory of the victims of the mafia is always already frequent. The article tries to explain the semiotic forms underlying this anti-mafia dendrolatry and its ways of spreading in the celebratory repertoire of contemporary Italy. Pulling the strings of this reconstruction, he finally proposes some critical considerations on the relationship between memory and landscape, against the more general background of the relationship between nature and culture in the Anthropocene era.

In this introductory note I present three essays on the relationship between trees and rituals in ancient Mediterranean civilisations and in Vedic India.

Il contributo lega il rinnovato interesse per le figure e l'immaginario arboreo allo sviluppo delle environmental humanities sullo sfondo del dibattito sull'Antropocene. In particolare, introduce gli orientamenti teorici principali che sottendono lo studio delle "dendrolatrie" negli ambiti di studio della memoria e del patrimonio culturale, dell'antropologia e della storia delle religioni e nel campo dei cultural studies. The study put into perspective the renewal of interest toward trees and botanical figures with the development of environemental humanities in the framework of the Anthropocene. In particular, it introduces the main theoretical orientations undelying the study of the cults of trees in the fields of memory and heritage studies, of anthropology and history of religion and of cultural studies.

Invisibilizzazione, disumanizzazione, dolore del trauma, naufragio: la scia si produce e si riproduce in mare, in un attraversamento in cui il Mediterraneo diviene eco dell’Atlantico e viceversa. Centrale per questo riecheggiare è la memoria. La memoria di un passato che non è mai passato, che torna a fratturare il presente e continua a riprodursi in un tempo circolare della schiavitù, inteso come futuro creato da essa (Hartman 2007). E la creazione del futuro passa per la coltivazione dei semi della memoria: semi in movimento, che creano così una trama filiforme che unisce l’Atlantico Nero al Mediterraneo Nero. Depositari del passato e base per la creazione del futuro, i semi della memoria e della ri-memoria (Morrison 2018 [1987]) verranno utilizzati nelle pagine che seguono per provare a tracciare questo tempo circolare attraverso l’utilizzo di diverse figurazioni arboree che costellano lo spazio e il tempo della scia. Queste figurazioni arboree, intese come cartografie trasformative, si manifestano come dendrolatrie della scia che costituiscono gli spazi del mare del Middle Passage così come del Mediterraneo: dal sistema della piantagione, narrato nel romanzo Amatissima (Morrison, 2018 [1987]), alle navi della scia quali alberi che solcano i mari, sino ai semi della memoria, simbologia centrale dell’afrofuturismo. Una circolarità di figurazioni arboree che nei loro attraversamenti e movimenti divengono corpi, spazi, prodotti e cartografie della diaspora; una circolarità che richiama quella del tempo della schiavitù, che dal passato – che non è mai passato – frattura il presente e costruisce il futuro. Invisitization, dehumanization, pain of trauma, shipwreck: the wake is produced and reproduced in the sea, in a crossing in which the Mediterranean becomes an echo of the Atlantic and vice versa. Central to this echo is memory. The memory of a past that has never passed, that returns to fracture the present and continues to reproduce itself in a circular time of slavery, understood as the future created by it (Hartman 2007). And the creation of the future passes through the cultivation of the seeds of memory: seeds in motion, which thus create a threadlike texture that unites the Black Atlantic to the Black Mediterranean. Depositaries of the past and basis for the creation of the future, the seeds of memory and of re-memory (Morrison 2018 [1987]) will be used in the following pages to try to trace this circular time through the use of different tree figurations that dot the space and time of the wake. These arboreal figurations, understood as transformative cartographies, manifest themselves as dendrolatries of the wake that constitute the spaces of the sea of ​​the Middle Passage as well as of the Mediterranean: from the plantation system, narrated in the novel Amatissima (Morrison, 2018 [1987]), to the ships of the wake like trees that plow the seas, up to the seeds of memory, the central symbol of Afrofuturism. A circularity of arboreal figurations that in their crossings and movements become bodies, spaces, products and maps of the diaspora; a circularity that recalls that of the time of slavery, which from the past - which has never passed - fractures the present and builds the future.

In the Sumerian and Akkadian mythological literature, the ruler of the city of Uruk, Gilgameš, uproots and/or cuts down trees on several occasions: the ḫalub-tree (mahaleb cherry) linked to the goddess Inanna and the eren (juniper)/erēnu (cedar) trees of the Forest guarded by Ḫuwawa. These trees should be understood as elements of a wider "wilderness", with which they share a powerful and ambiguous ontological otherness, as opposed to the city and the country of Sumer. In order to become useful, this otherness must be conducted in the city and subject to processes of organization. This article illustrates the symbolic implications of the uprooting, cutting down and subsequent transport of these tree species to the city and the importance of these actions not only for Gilgameš but also for his urban community. The sovereign's action on the tree, similar to that of a farmer or gardener, with the consequent creation of 'artefacts', allows, through the cultural organisation of the tree's power, the renewal of the relationship, always subject to crisis, between the human community and the divine world.

Il contributo si propone di dare una lettura dello scritto giovanile di Marx sulla "Legge relativa ai furti di legna" pubblicato sulla Gazzetta Renana nel 1842 anche attraverso l'incontro con gli scritti della maturità, soprattutto il capitolo XXIV del Capitale e le bozze di lettera al Vera Zasulič evidenziando gli elementi di una prospettiva della temporalità storica stratificata e plurale.

Il contributo esplora le geografie immaginarie connesse al riconoscimento UNESCO di Palermo arabo-normanna con l’obiettivo di svelare la centralità degli agrumi nella visione contemporanea della città. Le dinamiche di costruzione e le soggettività coinvolte nel progetto di ri-figurazione del luogo sono restituite attraverso l’analisi delle politiche urbane e dei discorsi veicolati dalla documentazione relativa alla candidatura del sito. Le radici rintracciate nella rappresentazione di una città prospera e lussureggiante, caratterizzata dall’abbondanza di acqua e dai suoi giardini ricolmi di frutti, sono esaminate per far emergere l’emblematico valore attribuito agli agrumi nell’immaginario arabo-normanno. Lo studio del processo di definizione dell’immagine urbana è condotto mediante l’analisi delle azioni che lo caratterizzano: la delimitazione spaziale e l’individuazione delle origini in un tempo mitico. Entrambe le operazioni si spazializzano mediante la creazione di un centro, che si riduce, nell’immagine mitica della città in un simbolo, l’albero di agrumi, elemento dominante del paesaggio agrario e sociale della Conca d’oro. Le radici di Palermo affondate nell’epoca arabo-normanna si abbarbicano nel terreno estromettendo tutto ciò che è fluido e transitorio, tutto ciò che non è integro e autentico e generano conflittualità. Le questioni sottese ai luoghi contestati sono pertanto indagate attraverso l’analisi di due casi di studio particolarmente significativi in riferimento al ruolo degli agrumi nell’immaginario contemporaneo connesso alla città di Palermo. I processi messi in luce attestano la compresenza di diversi punti di vista sull’uso del passato per definire il futuro dei luoghi. Dal modo in cui le figurazioni oggetto delle contestazioni si adattano all’immaginazione geografica di chi può dare un nome a questi luoghi e metterli sulla mappa della città, dipende il valore attribuito oggi agli agrumi e l’immagine di una città radicata nel mito di una ghirlanda paradisiaca, dove fioriscono i limoni e rifulgono le arance. The contribution explores the imaginative geographies related to the inclusion of the Arab-Norman site of Palermo in the World Heritage List UNESCO, with the aim of revealing the centrality of citrus fruits in the contemporary vision of the city. The construction and the subjectivities involved in the project of re-figuration of the place are deepened through the analysis of urban policies and discourses conveyed by the documentation relating to the candidacy of the site. The roots traced in the representation of a prosperous city, characterized by the abundance of water and its gardens full of fruits, are examined to bring out the emblematic value attributed to citrus fruits in the Arab-Norman imaginary. The process of definition of the urban image is explored through the analysis of the actions that characterize it: the spatial delimitation and the identification of the origins in a time long gone. Both operations are spatialized through the creation of a centre, which is reduced, in the mythical image of the city in a symbol, the citrus tree, which is the dominant element of the agrarian and social landscape of the 'Conca d'oro'. The roots of Palermo, sunk in the Arab-Norman era, cling to the ground, ousting everything fluid and transitory, everything that is not whole and authentic and generating conflict. The issues underlying the contested places are therefore investigated through the analysis of two particularly significant case studies concerning the role of citrus fruits in the contemporary imagination connected to the city of Palermo. The processes attest to the coexistence of different points of view on the use of the past aimed to define the future of places. Imaginative geographies produced by actors that can give a name to these places and put them on the map of the city, affect the value attributed today to citrus fruits and the image of a city rooted in the myth of a paradisiacal garland, where lemons bloom and oranges shine.

Poetry and anthropology: what do they have to do with each other? More and more often this pairing is invoked in the cultural chronicles, and even more often it is practised in the their actual performance: by poets less so, probably, but certainly by anthropologists, ethnologists, ethnographers or whatever you want to call them. Not without irritation in the academic establishment, always ready to defend traditional disciplinary fences, it happens - with an insistence that has become a trend - that much anthropological research acquires a tone and language, and therefore evidently contents, that overflow into the poetic, or that at least recall passages, styles and sensations that poetry has sometimes produced in the course of its long history.

Una introduzione alla sezione "Cultural Studies" del volume

Lo Sciasciario dialettale è un contributo alla documentazione della lingua dell’autore di Racalmuto – con specifico riguardo al lessico dialettale – per offrire uno strumento utile per la comprensione della parole letteraria dell’autore di Racalmuto. Si tratta di una “lista di parole” ordinate alfabeticamente e riguardanti gli “autoctonismi” dialettali, le voci del dialetto usate nell’opera sciasciana che non trovano corrispondenti formali nell’italiano letterario (per es. sic. naca vs it. culla). In quanto voci “autenticamente” ed esclusivamente dialettali, esse esistono solo dentro l’orizzonte (etno)linguistico siciliano e svelano il tesoro più genuino del dialetto informando sulla parte più profonda e più autentica della storia e della cultura delle genti della più grande isola del Mediterraneo. Il loro percorso storico e sociale è, dunque, unico e va letto in intima relazione con il mondo culturale che le usa e le tramanda per “predicarsi”: Si tratta del mondo della “civiltà contadina”, quello della cultura dei campi, della «cultura dei mestieri », di cui partecipava anche chi contadino o artigiano non era e che, a ben pesarci, coincide con il mondo socio-culturale e con la parrocchia nei quali si è formato e dei quali si è nutrito Leonardo Sciascia.

Permutation entropy (PE) was recently introduced as a very fast and robust algorithm to detect dynamic complexity changes in time series. It was also suggested as a useful screening algorithm for epileptic events in EEG data. In the present work, we tested its efficacy on scalp EEG data recorded from three epileptic patients. With a receiver operating characteristics (ROC) analysis, we evaluated the separability of amplitude distributions of PE resulting from preictal and interictal phases. Moreover, the dependency of PE on vigilance state was tested by correlation coefficients. A good separability of interictal and preictal phase was found, nevertheless PE was shown to be sensitive to changes in vigilance state. The changes of PE during the preictal phase and at seizure onset coincided with changes in vigilance state, restricting its possible use for seizure prediction on scalp EEG; this finding however suggests its possible usefulness for an automated classification of vigilance states.

Background: Thalidomide is effective as a first-line therapy for the treatment of multiple myeloma (MM), but its use is limited by peripheral neurotoxicity. Objective: To study the occurrence of both myeloma-related neuropathy and thalidomide-induced neuropathy in 31 patients with newly diagnosed MM. Methods: Clinical and electrophysiologic examinations were performed in 31 patients with newly diagnosed MM before and after 4 months of therapy with thalidomide (200 mg/day, total dose: 21 g) aimed at debulking MM, before autologous transplantation. After transplantation, the patients took thalidomide, 200 mg/day for another 3 months (total dose over three months: 18 g) and then underwent a final clinical and electrophysiologic checkup. Results: At baseline, four patients presented a mild sensorimotor peripheral neuropathy related to MM, which tended to worsen slightly during treatment with thalidomide. At the end of treatment, 83% of the patients had clinical and electrophysiologic evidence of a mild sensory rather than motor, axonal, length-dependent polyneuropathy, whereas 100% of the patients showed improvement to the basic pathology (≥partial response). Conclusions: Peripheral neuropathy, sometimes subclinical, and mild in our patients, is a common, early side effect of thalidomide therapy. The high doses (21 g) used in all patients for a relatively short time (4 months) rule out any correlations between neuropathy, total dose, and duration of treatment.

Epileptic EEG paroxysms can interfere with cognitive processes producing transitory effects, such as those related to a single spike, as well as long-lasting effects, such as in electrical status epilepticus during slow-wave sleep (ESES). Focal spike-related disruption of cortical functions can produce transitory cognitive impairment, with neuroanatomical specificity between the site of the epileptic focus and the impaired cognitive tasks. ESES represents a model of the long-lasting effects of continuous spike-wave activity on higher cortical functions. The duration of ESES and the localization of interictal foci seem to play a major role in influencing the degree and type of cognitive dysfunction, suggesting that the ESES clinical picture results from a localized disruption of EEG activity caused by focal epileptic activity during sleep. Recently, Giulio Tononi's group reported that a local increase of slow-wave activity (SWA) during sleep after learning is associated with improved performance of the learned task after sleep (Huber et al., Nature 2004;430:78-81). On the basis of these findings, we can speculate that prolonged focal epileptic activity during sleep (as occurring in ESES) interferes with local SWA at the site of the epileptic focus, impairing the neural processes and, possibly, the local plastic changes associated with learning and other cognitive functions.

The authors report the clinical and polygraphic features of rhythmic teeth grinding observed in a patient as the predominant symptom related to temporal lobe seizures during sleep and wakefulness. This observation demonstrates that exceptionally a teeth-grinding event can be not only a parasomnia (sleep bruxism) but also an epileptic-related motor event. Electromyographic and autonomic features of seizure-related teeth grinding support the interpretation of this motor phenomenon as a particular form of masticatory activity.

Objectives: Little is known about the long term outcome of patients with periventricular nodular heterotopia (PNH) and epilepsy, particularly the course of seizures. This study investigated the electroclinical and prognostic features of 16 patients with PNH. Methods: Of 120 patients with epilepsy and malformations of cortical development, 16 had PNH. Of these, eight patients had periventricular nodules only (simple PNH) and eight also presented with other cortical or cerebral malformations (subcortical heterotopia; polymicrogyria; focal dysplasia; schizencephaly; cortical infolding; agenesis of the corpus callosum; mega cisterna magna and cerebellar atrophy) (PNH plus). All patients underwent clinical, neurophysiological, and MRI investigation. The mean follow up was 17.3 years (2–40 years). Results: Two electroclinical patterns emerged: (1) The first pattern, associated with simple PNH, was characterised by normal intelligence and seizures, usually partial, which began during the second decade of life. The seizures never became frequent and tended to disappear or become very rare. The EEG showed focal abnormalities. (2) The second pattern, associated with PNH plus, was characterised by mental retardation and seizures that began during the first decade of life. The seizures were very frequent in most cases and sudden drops were observed in six patients. Seizures were medically refractory in four patients. The EEG showed focal and bisynchronous abnormalities. Conclusions: Two groups of PNH patients with different electroclinical and neuroradiological features can be identified after a long term follow up. The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis.

Lesion and neuroimaging studies have demonstrated that the mesial temporal lobe is crucial for recognizing emotions from facial expressions. In humans, bilateral amygdala damage is followed by impaired recognition of facial expressions of fear. To evaluate the influence of unilateral mesial temporal lobe damage we examined recognition of facial expressions and functional magnetic resonance (fMRI) brain activation associated with incidental processing of fearful faces in thirteen mesial temporal lobe epilepsy (MTLE) patients (eight with right MTLE, five with left MTLE). We also examined the effect of early versus later damage, comparing subjects with hippocampal-amygdalar sclerosis (MTS) and seizures occurring before five years of age to epilepsy patients with late onset seizures. Fourteen healthy volunteers participated as controls. Neuropsychological testing demonstrated that the ability of right MTLE patients to recognize fearful facial expressions is impaired. Patients with early onset of seizures were the most severely impaired. This deficit was associated with defective activation of a neural network involved in the processing of fearful expressions, which in controls and left MTLE included the left inferior frontal cortex and several occipito-temporal structures of both hemispheres.

International audience; There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.

Interpretation: Mutations in SCARB2 are an important cause of hitherto unsolved cases of PME resembling ULD at onset. SCARB2 should be evaluated even in the absence of renal involvement. Onset is in teenage or young adult life. Molecular diagnosis is important for counseling the patient and family, particularly as the prognosis is worse than classical ULD. Methods: We reviewed cases of PME referred for diagnosis over two decades in which a molecular diagnosis had not been reached. Patients were classified according to age of onset, clinical pattern, and associated neurological signs into "ULD-like" and "not ULD-like." After exclusion of mutations in cystatin B (CSTB), DNA was examined for sequence variation in SCARB2 and PRICKLE1. Objective: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME mimicking ULD. Results: Of 71 cases evaluated, 41 were "ULD-like" and five had SCARB2 mutations. None of 30 "not ULD-like" cases were positive. The five patients with SCARB2 mutations had onset between 14 and 26 years of age, with no evidence of renal failure during 5.5 to 15 years of follow-up; four were followed until death. One living patient had slight proteinuria. A subset of 25 cases were sequenced for PRICKLE1 and no mutations were found. Refereed/Peer-reviewed