bluuebunny/crossref_metadata_2025 huggingface dataset:
Repetitive sleep starts in neurologically impaired children: an unusual non‐epileptic manifestation in otherwise epileptic subjects
Authors: Fusco Lucia , Pachatz Christa , Cusmai Raffaella , Vigevano Federico
Published: March 2024

Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic‐dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto‐neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4‐15 min and comprised from twenty to twenty‐nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion.
Seizure with prominent tonic initial signs followed by psychomotor features: a case report clinically manifesting an unusual ictal evolution
Authors: Ikeda Akio , Sengoku Akira , Aoyagi Nobuhisa , Kubota Yasutaka , Matsumoto Riki , Ohara Shinji , Kunieda Takeharu , Kimura Kaku , Takahashi Jun , Miyamoto Susumu , Shibasaki Hiroshi
Published: March 2024

A clinically tonic seizure phase, immediately followed by psychomotor features (right hand dystonic posture, left hand and oral automatisms), was recorded by video and EEG, in a patient who had gliosis of the left temporal lobe and left hippocampal atrophy. Interictal epileptiform discharges were frequently seen in the left temporal area, and at the time of the tonic seizure phase, ictal spike discharges were continuously observed at the left posterior temporal area, which was recognized only by applying a high frequency filter (HFF) of 15 Hz to the digitally recorded EEG because EMG artifacts totally obscured the EEG with a HFF of 60 Hz. It is most likely that tonic seizure can occur in an adult patient with temporal lobe epilepsy, and it is speculated that an epileptogenic focus might activate a certain brain area which is regarded as a symptomatogenic zone for tonic seizures. If the tonic seizure phase is immediately followed by psychomotor features as seen in the present patient, the former could be due to focal epilepsy.
Effects of valproate, vigabatrin and tiagabine on GABA uptake into human astrocytes cultured from foetal and adult brain tissue
Authors: Fraser Caroline M. , Sills Graeme J. , Butler Elaine , Thompson George G. , Lindsay Kenneth , Duncan Roderick , Howatson Alan , Brodie Martin J.
Published: March 2024

The antiepileptic agents sodium valproate (VPA), vigabatrin (VGB) and tiagabine (TGB) have been proposed to exert their effects, at least in part, by an action on the transport of the inhibitory neurotransmitter y‐aminobutyric acid (GABA). This information has, however, been gleaned from studies employing experimental systems derived from animal tissues. We have conducted preliminary studies of the effects of VPA, VGB and TGB on the transport of GABA into primary cultures of human astrocytes, derived from both adult and foetal tissues. Astrocytes were prepared from cerebral cortical tissue obtained from patients undergoing surgery for intractable epilepsy, and from spontaneously aborted foetuses (16‐24 weeks gestation). The cells were isolated via a series of enzymatic digestions, grown under standard culture conditions for around 21 days and then assayed for GABA uptake activity. VPA (1,000 μM), VGB (100 μM) and TGB (200 nM) all significantly (p < 0.05) reduced the uptake of GABA into primary cultures of human adult astrocytes following a one hour exposure. VPA (1,000 μM) and VGB (100 μM) similarly reduced GABA uptake into astrocytes derived from human foetal tissue, while TGB (200 and 500 nM) was without effect. The results of these preliminary studies suggest that VPA and VGB reduce GABA transport into both adult‐ and foetally‐derived human astrocytes, whereas TGB appears active only in cells cultured from adult brain. Delayed development of the GAT‐1 transporter in foetal tissue could explain this observation.
Ipsilateral blinking: A rare lateralizing seizure phenomenon in temporal lobe epilepsy
Authors: Henkel A. , Winkler P.A. , Noachtar S.
Published: March 2024

Content available: Video
Visual phenomena and headache in occipital epilepsy: a review, a systematic study and differentiation from migraine
Authors: Panayiotopoulos Chrysostomos P.
Published: March 2024

This is a systematic‐prospective study of occipital seizures with elementary visual hallucinations in 18 patients with symptomatic occipital epilepsy. Qualitative and chronological analysis showed that visual seizures usually lasted for seconds to 1‐3 minutes. Three patients also had longer visual seizures of 20‐150 minutes. Elementary visual hallucinations mainly consisted of coloured and small circular patterns flashing or multiplying in a temporal hemifield. Flashing lights or non‐circular patterns were rare. Three patients experienced achromatic flickering lights. None of the patients had the over 4 minute, linear, zigzag, and achromatic or black and white patterns characteristic of migraine visual aura. Blurring of vision could precede visual hallucinations. Visual seizures were usually frequent, often occurring in multiple clusters daily or weekly. They usually occurred alone but they often advanced to other occipital and extra‐occipital ictal symptoms. In 7 patients they progressed to temporal lobe seizure manifestations, and in 6 to motor partial seizures or ipsilateral hemiconvulsions. All but 2 had secondary generalised tonic clonic convulsions. Ictal blindness
ab initio
occurred in 2 and ictal, mainly orbital headache in another 2 patients. One patient had ictal vomiting as an occasional symptom. Postictal headache, often severe and indistinguishable from migraine, occurred in two thirds of the patients, even after brief visual seizures without convulsions. Despite relevant structural lesions in brain imaging, 10 patients had a normal mental and neurological state. In 8 patients, EEG was also normal or nonspecific. Misdiagnosis of visual seizures as visual aura of migraine was common and 3 patients were misdiagnosed as suffering from migraine.
Evolution of epilepsy surgery in childhood: the neurologist's point of view
Authors: Aicardi Jean
Published: March 2024

Surgical treatment of epilepsy in children has been slow to develop because of uncertainties regarding the prognosis of early epilepsies, difficulties in the diagnosis of causal lesions, the frequency of severe, extensive brain damage, and technical problems.

Surgery for epilepsy in infants and children raises problems quite different from those in adults. This applies especially to severe infantile epilepsies for which the aim of treatment may be more to facilitate neurodevelopment than to control the seizures. In addition, intractability cannot be defined in the same terms at different ages, the time scale being usually much shorter in young children and the operations required often extensive. The results of surgery in childhood are comparable to those in adults. However, indications for surgery and assessment of its results in catastrophic epilepsies of infants requires different rules to those that apply to adults and older children.
Neuropsychology of childhood epilepsy: Pre‐ and postsurgical assessment
Authors: Lassonde Maryse , Sauerwein Hannelore C. , Jambaqué Isabelle , Smith Mary Lou , Helmstaedter Christoph
Published: March 2024

Childhood epilepsy is one of the most prevalent forms of chronic and disabling childhood disorders. Because it disrupts brain maturation, it has long been thought to produce non‐specific consequences such as mental deficiency and behavioral problems. However, advances in medical knowledge have shown that childhood epilepsy should not be considered as a single disorder, and it is now becoming apparent that various clinical entities have different cognitive expressions that yet need to be specified. The purpose of this paper is to provide an up‐to‐date analysis of this multi‐faceted pathology. The first section is devoted to the characterization of the neuropsychological profile that accompanies focal epilepsies, as defined by the site of the epileptic process. We report the first group study of children with frontal lobe epilepsy. The results indicate that frontal lobe epilepsy produces symptoms (deficits of planning, attention and motor dexterity) that are akin to those found in frontal‐lesioned adults. Similarly, like in adults, temporal lobe epilepsy produces memory impairment in children as well as behavioral and academic disturbances. Occipito‐parietal lobe epilepsy is rare in children and its effects still need to be specified. The second section deals with the neuropsychological techniques used in presurgical evaluation. Finally, the various neurosurgical procedures that are increasingly being used as part of the arsenal of epilepsy treatment are described along with the neuropsychological findings that are associated with these interventions. It can be concluded that the beneficial effects of epilepsy surgery (callosotomy, hemispherectomy, temporal and extra‐temporal resections) by far outweigh the few cognitive deficits that are occasionally reported following these interventions.
Hypothalamic hamartoma, precocious puberty and gelastic seizures: A special model of “epileptic” developmental disorder
Authors: Deonna Thierry , Ziegler Anne‐Lise
Published: March 2024

Based on a review of the litterature and a detailed longitudinal single case study of a child with early onset gelastic seizures and hypothalamic hamartoma, the authors review the arguments suggesting that the acquired cognitive and behavioral symptoms seen in the majority of cases of this special epileptic syndrome result from a direct effect of the seizures. The early neurobehavioral profile of the case presented in this paper and that of a previous study is particular and combines features of a pervasive developmental and an attention deficit disorder which are probably closely related to the particular location of the epilepsy and its spread from the hypothalamus.
Treatment of children with “ordinary” epilepsy
Authors: Camfield Peter R. , Camfield Carol S.
Published: March 2024

Many children with epilepsy have a relatively benign clinical course with eventual remission of their seizures and no further need for medication. It is not easy to be sure who these children are at the time of diagnosis, but they do not have catastrophic epilepsy. Epilepsy is best defined as two unprovoked seizures. Not all of these children require treatment and treatment is motivated by fear of brain damage, injury, death, kindling of additional seizures, and social consequences. None of these fears provides an absolute indication for treatment. The decision to start medication should be considered on an individual basis. The choice of a first AED is arbitrary with most AEDs having equal efficacy. Follow‐up schedules have not been well studied. However, there is fairly convincing evidence that routine blood and urine screening for toxicity is of no benefit, if the child is asymptomatic. Serum drug levels are of little clear benefit. Once the child has been seizure‐free for 6 months to 12 months, it is reasonable to consider stopping medication. Only rarely does seizure control fail to return if there are recurrences without medication.
Electrocorticography
Authors: Keene Daniel L. , Whiting Sharon , Ventureyra Enrique C.G.
Published: March 2024

Electrocorticography (ECOG), the intra‐operative recording of cortical potentials, has played an important role in the surgical management of patients with medically refractory epilepsy. It has been used 1) to localize the epileptogenic tissue; 2) map out cortical functions; and 3) predict the success of the surgery. Despite its common use, few studies have been done to prove its effectiveness in these areas.

The technique used in children for recording ECOG is very similar to that used in adults except for the limitations imposed by the child's age. Anaesthesia must often be used.

Based upon a computerized medical literature search, a review of this procedure was done. Pre‐resection localization, and post‐resection prediction of outcome was done for temporal and extra‐temporal resection, both lesional and nonlesional. Most of the available studies were in adult patients. All were retrospective in nature.

Evidence for the role of pre‐resection ECOG in determining the degree of resection felt necessary to obtain good clinical outcome was limited. Similarly the post‐resection ECOG predication of surgical outcome was restricted.
Semiological seizure classification: relevance to pediatric epilepsy
Authors: Bautista Jocelyn F. , Lüders Hans O.
Published: March 2024

The selection of terminology, though seemingly unimportant, can have profound effects on our thinking. A seizure classification system based exclusively on seizure semiology emphasizes the wide diversity and richness of seizure expression. In the field of epilepsy surgery, the use of a seizure classification system that emphasizes ictal semiology in an invaluable first step in the precise localization of ictal onset. This proves to be particularly true in pediatric epilepsy, because seizure semiology is more subtle and difficult to characterize. The following article describes a semiological seizure classification and its relevance to both pediatric epilepsy surgery and status epilepticus.
Eating epilepsy. Heterogeneity of ictal semiology: the role of video‐EEG monitoring
Authors: Loreto Vincenzo , Nocerino Cristofaro , Striano Pasquale , D'Aulos Federica , Boccella Patrizia , Striano Salvatore
Published: March 2024

In this paper, three more cases of eating‐induced seizures are reported. We have obtained ictal video‐electroencephalogram (EEG) recordings for two patients, which confirm the heterogeneity of ictal semiology of these seizures. However, in all the cases the inclusion of this kind of reflex epilepsy (RE) among the localization‐related epilepsies (LRE) is confirmed. The usefulness of video EEG monitoring in studying these seizures and reflex epilepsy in general (RE) is stressed.
Clinical findings, imaging characteristics and outcome in catastrophic post‐encephalitic epilepsy
Authors: Trinka Eugen , Dubeau François , Andermann Frederick , Bastos Alexandre , Hui Andrew , Li Li Min , Köhler Stefan , Olivier André
Published: March 2024

Objectives

The aim of this study is to characterize the clinical features and prognostic factors for intractable, post‐encephalitic epilepsy.

Methods

We studied retrospectively 42 patients (26 men) evaluated between 1982 and 1999. MRI, neuropsychological findings, interictal and ictal scalp EEG were reviewed for all patients. Fifteen patients had additional stereo EEG (SEEG) studies.

Results

The mean age at encephalitis was 17 years (SD = 15.5); etiology was identified in 18 patients. During the acute illness, 79% had status epilepticus (SE) or recurrent seizures and 76% were in coma; mean Glasgow outcome scale (GOS) was 3.6 (SD = 0.8). The mean latency to seizure onset was 0.8 years (SD = 1.9). The majority (72%) presented with complex partial seizures with or without secondary generalization. According to interictal epileptiform findings and the predominant seizure onset pattern as found on scalp EEG, patients were unilateral temporal (UTLE) = 8, bilateral temporal (BTLE) = 12, and extratemporal/multifocal or generalized (ETMFE) = 22 patients. MRI atrophy and/or signal changes were unilateral temporal in 7 (18%), bilateral temporal in 5 (13%), multilobar/diffuse in 20 (51%), and absent in 7 (18%). ANOVA revealed significant differences in mean GOS between UTLE versus BTLE and ETMFE (4.7
versus
3.2
versus
3.6; p < 0.0001), but not in age at encephalitis. Latency to the first unprovoked seizure was shorter in patients with ETMFE compared to UTLE and BTLE (p < 0.01). Surgery was performed in 24 patients. The best outcome was obtained in UTLE (7/8 class I and II). In the others, outcome was poor in the majority (13/16 class III and IV).

Conclusion

There is a small subgroup of patients with postencephalitic UTLE for whom the outcome is favorable. The majority of our patients had multifocal seizure onset with BTLE and ETMFE, and poor outcome after surgical treatment.
Symptomatic epilepsy with facial myoclonus triggered by language
Authors: Canevini Maria Paola , Vignoli Aglaia , Sgro Vincenzo , Zambrelli Elena , Piazzini Ada , Colombo Nadia , Canger Raffaele
Published: March 2024

We report on a patient with a left frontal lesion who, many years after an injury, developed non‐fluent aphasia and facial myoclonic jerks triggered by speaking and listening to spoken language.

At age 57, the patient first noted that he would begin to stutter when delivering lectures at conferences. The stuttering would worsen if he continued talking. The video‐polygraphic EEG recording shows brief paroxysms of spikes and polyspikes, followed by a slow wave, more evident in the left fronto‐temporal region. The myoclonic jerks originating from the submental area correlate with EEG abnormalities. Clinically, these jerks determined a form of stuttering. The triggering factors were reading, speaking and listening to spoken language.

This case had several characteristic features: facial myoclonus was the only seizure type experienced by the patient; the seizures and language impairment had a very late onset – about 50 years after the traumatic event that produced a dramatic lesion in the left fronto‐polar region. (Published with videosequences.)
Drug‐induced nonconvulsive status epilepticus with low dose of tiagabine
Authors: Fitzek Sabine , Hegemann Stefan , Sauner Dieter , Bönsch Dominikus , Fitzek Clemens
Published: March 2024

In placebo‐controlled trials, the overall incidence of nonconvulsive status epilepticus was no higher in the tiagabine‐treated group than in the placebo‐group. Case reports of nonconvulsive status epilepticus under tiagabine suggested a specific role of dose levels, since in these patients symptoms occurred mostly at 40 mg/day or higher. We report a case of complex partial status epilepticus in a patient receiving a low dose of tiagabine and review all 11 case reports of nonconvulsive status epilepticus in patients on tiagabine, with regard to daily doses. Our analysis suggests an individual risk threshold of unknown aetiology.
Synchronies, de la cognition à la crise
Authors: Foucher Jack R.
Published: March 2024

Il pourrait paraître étrange qu'un même mécanisme neurophysiologique puisse concerner aussi bien l'activité cérébrale normale qu'une activité critique. En reprenant les concepts‐clés des synchronies à l'œuvre lors d'une activité cognitive, nous verrons les différences entre synchronies «critiques» et synchronies «cognitives»: le caractère non différencié des premières, la définition statistique et non rythmique de la seconde. Nous spéculerons enfin sur les rapports qu'elles pourraient entretenir à la lumière des découvertes récentes sur l'anticipation des crises et sur la possibilité qu'elles puissent partager certains générateurs.
Des pionniers de l'EEG au traitement du signal: Application à l'exploration des épilepsies de l'enfant
Authors: Hirsch Edouard , Derambure Philippe
Published: March 2024

L'électroencéphalographie est un examen irremplaçable pour l'exploration d'une épilepsie. Il reste la seule façon d'explorer en temps réel l'activité corticale. La classification des épilepsies est basée sur les corrélations électrocliniques et les anomalies électroencéphalographiques sont des éléments importants à prendre en compte pour établir le diagnostic d'un syndrome épileptique. Cet article se propose de revenir sur l'histoire de l'électroencéphalographie et de montrer comment le passage à l'EEG numérisé a permis de développer des outils très simples de traitement du signal qui sont maintenant intégrés à l'EEG de routine. Certaines méthodes sont présentées afin d'illustrer les applications potentielles aux épilepsies de l'enfant.
EEG‐vidéo chez le nouveau‐né: quel intérêt?
Authors: Bednarek Nathalie
Published: March 2024

Les enregistrements EEG couplés à la vidéo chez le nouveau‐né sont nécessaires pour une meilleure compréhension des situations du fait de la complexité et de la grande variabilité des manifestations paroxystiques liées à l'immaturité cérébrale à cet âge. Autant un diagnostic de crise peut être fait sur la clinique ou l'interrogatoire chez l'enfant plus âgé ou chez l'adulte, autant le diagnostic de crise sur la description clinique est plus aléatoire chez le nouveau‐né. L'EEG chez le nouveau‐né couplé à la vidéo présente plusieurs intérêts:

affirmer la nature convulsive des manifestations paroxystiques;

affiner la sémiologie des crises;

localiser un point de départ des crises;

analyser l'état inter‐critique de l'enfant avant l'administration des antiépileptiques.

D'autres avantages liés à l'utilisation de l'EEG couplé à la vidéo peuvent être mentionnés: il apporte une aide au diagnostic et au pronostic (classification syndromique) et il peut constitué une «mémoire» à court terme avant la mise en route des antiépileptiques mais aussi à long terme. Il limite aussi la variabilité interobservateur.
Imagerie cérébrale. Nouveautés en épileptologie infantile: qu'en faire?
Authors: Chiron Catherine , Hertz‐Pannier Lucie
Published: March 2024

Le développement important des techniques non invasives d'imagerie cérébrale a favorisé des progrès en épileptologie infantile concernant principalement le bilan préchirurgical des épilepsies pharmacorésistantes et l'étude de leur retentissement intellectuel. L'IRM, grâce à une meilleure résolution spatiale, permet de détecter des lésions épileptogènes de plus en plus petites, chez des enfants de plus en plus jeunes. Elle en visualise de mieux en mieux la macroanatomie sulcogyrale et permet une approche génétique et syndromique des différentes malformations cérébrales épileptogènes. Le SPECT ictal, avec une méthodologie stricte incluant un EEG‐vidéo simultané et une analyse multidisciplinaire des images, aide à localiser la zone épileptogène et à positionner les électrodes d'EEG intracranien. L'IRM fonctionnelle, par des épreuves d'activation sélective, localise les régions motrices et latéralise le langage avec une bonne corrélation avec le test de WADA. Le SPECT et la TEP interictales montrent les zones de dysfonctionnement qui sous‐tendent les troubles neuropsychologiques et comportementaux associés aux épilepsies. Enfin l'IRM fonctionnelle peut visualiser la plasticité post‐lésionnelle ou post‐chirurgicale en comparant des études successives chez un même patient.
Psychopathologie Annonce du diagnostic
Authors: Livet Marie‐Odile
Published: March 2024

La fréquence importante des troubles émotionnels et psychopathologiques chez les enfants épileptiques est bien connue. La prévention de ces risques psycho‐sociaux est indispensable et fait d'abord partie du travail médical. L'annonce du diagnostic d'épilepsie doit être faite dans cette perspective, l'écoute et l'information des parents et de l'enfant lui même demandent toute l'attention du médecin. C'est ainsi que leur travail d'adaptation psychique et leur ajustement psycho‐social à la maladie épileptique peut être favorisé.
Generalized Epilepsy with Febrile Seizures plus and Severe Myoclonic Epilepsy in Infancy: a case report of two Italian families
Authors: Veggiotti Pierangelo , Cardinali Simonetta , Montalenti Elisa , Gatti Anna , Lanzi Giovanni
Published: March 2024

“Generalized epilepsy with febrile seizures plus” (GEFS+) syndrome has been recently described. This term defines a heterogeneous group of generalized epilepsies observed in several members of large pedigree studies. The syndrome spectrum has been widened by including others forms of generalized epilepsy. We report two Italian families in which the fathers showed febrile seizure plus (FS+), and two sons had severe myoclonic epilepsy of infancy (SMEI). The clinical setting of each epileptic member of the family will be discussed, focusing on the relationship with the GEFS+ group, confirming its wide clinical spectrum. In fact, GEFS+ is different from most other epilepsy syndromes as it is defined not by a set of associated symptoms but by the genetic transmission of a predisposition to febrile convulsions and other seizures, with a variable expression in several members of the same pedigree, perhaps due to ionic channel dysfunction. SMEI could represent the most severe end of the spectrum.
Epilepsy and epileptic disorders, an epidemiological marker? Contribution of descriptive epidemiology
Authors: Jallon Pierre
Published: March 2024

Numerous epidemiological studies concerning the incidence and prevalence of epilepsy and epileptic seizures have been performed in different geographical areas throughout the world. The results of these studies show some disparities in the evaluation of incidence and prevalence rates. Higher incidence rates have been reported in a few studies performed in developing countries. Many prevalence studies seem to corroborate this figure although more recent surveys report similar rates to those observed in the developed world. These controversial results are discussed because there is no scientific reason that the clinical aspects and natural evolution of the disease should be different between developed and developing countries. However, some epidemic or endemic diseases might explain, in part, these figures. On the other hand, the age and sex distribution of the disease seems to be specific to epilepsy and could be related to particular risk factors and some demographic considerations.

Apart from obvious methodological biases, the results of these studies lead us to recognize that epilepsy is
universal
– it can occur in any people – and is
ubiquitous – i.e.
it is observed in every country – but is not an
equally
distributed disease. Epileptic seizures and epilepsy might be considered as an epidemiological marker of some endemo‐epidemic diseases or the results of certain preventive measures.
Temporal pole MRI abnormalities in temporal lobe epilepsy
Authors: Ryvlin Philippe , Coste Sébastien , Hermier Marc , Mauguière François
Published: March 2024

Magnetic resonance imaging (MRI) demonstrates an abnormal aspect of the temporo‐polar region in 1/3 to 2/3 of patients suffering from cryptogenic temporal lobe epilepsy. This abnormal aspect is described as a white matter increased T2 signal, resulting in a loss of gray‐white matter demarcation, often associated with atrophy, as recently confirmed by quantitative volumetric measurements. These temporo‐polar MRI findings appear to correctly lateralize the epileptogenic temporal lobe with a very high specificity, and have never been reported in extra‐temporal lobe epilepsy nor in control subjects. They are usually associated with MRI signs of hippocampal sclerosis, but the two conditions seem to be partly distinct from a pathophysiological point of view. Pathological correlates of temporo‐polar white matter increased T2 signal are controversial, but the role of an abnormal myelin seems more likely than that of ectopic neurons. A myelin dysfunction would also be consistent with the correlation observed between lateral temporal hypometabolism and temporo‐polar MRI abnormalities. Whether or not these MRI findings are associated with a better seizure outcome following temporal lobectomy remains a debated issue.
Functional organization of the circuits connecting the cerebral cortex and the basal ganglia: implications for the role of the basal ganglia in epilepsy
Authors: Slaght Seán Joseph , Paz Tamar , Mahon Séverine , Maurice Nicolas , Charpier Stéphane , Deniau Jean‐Michel
Published: March 2024

The basal ganglia are composed of a set of forebrain structures implicated in the adaptive control of behaviour. These structures process information originating from the entire cerebral cortex, as well as from nonspecific thalamic nuclei and the amygdala. In turn, they redistribute the integrated signals toward thalamic and brainstem nuclei related to motor, premotor, prefrontal and limbic cortical areas. During the two last decades, there has been increasing experimental evidence that the basal ganglia circuitry may be part of a remote control system influencing the spread of epileptic seizures. In the present article, we review the basic principles of the functional organization of the basal ganglia and provide experimental data on the activity that is transmitted by the cerebral cortex to the input stage of the basal ganglia during absence seizures. The functional organization of the basal ganglia supports the current hypothesis that these structures can dynamically control generalized seizures through their input‐output relationships.

RÉSUMÉ – Organisation fonctionnelle des circuits connectant le cortex cerebral aux ganglions de la base: implication pour le rôle des ganglions de la base dans l'épilepsie.
Les ganglions de la base sont constitués d'un ensemble de structures sous corticales impliquées dans le contrôle adaptatif du comportement. Ces structures intègrent des informations issues de l'ensemble du cortex cérébral ainsi que des noyaux thalamiques non spécifiques et de l'amygdale. En sortie, les ganglions de la base exercent leur influence sur des noyaux du thalamus et du tronc cérébral en relation avec les aires corticales motrices, prémotrices, préfrontales et limbiques. Au cours de ces vingt dernières années, diverses données expérimentales ont étayé l'hypothèse que les ganglions de la base font partie d'un système de contrôle de la propagation des crises d'épilepsie. Cet article résume les principes fondamentaux de l'organisation fonctionnelle des ganglions de la base et décrit l'activité transmise par le cortex cérébral à l'étage d'entrée du système des ganglions de la base pendant les crises d'épilepsie de type absence. L'organisation fonctionnelle des ganglions de la base est cohérente avec l'hypothèse que ce système exerce un contrôle dynamique sur les crises d'épilepsie généralisées par l'intermédiaire de ses relations entrée‐sortie.
Psychiatric aspects of patients with hypothalamic hamartoma and epilepsy
Authors: Savard Ghislaine , Bhanji Nadeem H , Dubeau François , Andermann Frederick , Sadikot Abbas
Published: March 2024

Uncontrolled rage, while long associated with hypothalamic hamartoma, has not been as extensively studied as the epilepsy. Rage can be more detrimental to quality of life than seizures. It is now realized that behavior and aggression improve after a complete resection of the hypothalamic hamartoma correlating with a good seizure control post‐surgically.

We report on the longitudinal psychiatric history of a patient with hypothalamic hamartoma and rage whose severe and refractory epilepsy was ultimately treated by thalamic and intrahamartoma chronic stimulation. Our patient did not exhibit sham rage typical of hypothalamic lesions, but rather multifactorial aggressive bouts typical of challenging behaviors seen with mental retardation. The anxious and social features of the aggression suggest that psychiatric interventions, which have been neglected as the emphasis has been on seizure control, are worthwhile in the overall management of this difficult case.
Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders
Authors: Biesecker Leslie G.
Published: March 2024

Manifestations of non‐syndromic hypothalamic hamartomas are different from those of the syndromic hamartomas, and the syndromic ones are rare. In spite of the rarity of the syndromic hamartomas, they can be a powerful biological tool to help us understand the pathophysiology of these heritable disorders. Several disorders that include hypothalamic hamartomas are reviewed here and the current understanding of the biology of the lesions is summarized.
Resective surgery for hypothalamic hamartoma
Authors: Polkey Charles E
Published: March 2024

Hypothalamic hamartoma presents with precocious puberty, epilepsy or both. There are two epileptic syndromes, one presenting initially in infancy with gelastic seizures evolving rapidly into a syndrome with multiple seizures, developmental delay and a moderate to severe behaviour disorder. The other presents later with a milder epileptic syndrome, again usually including gelastic seizures, but with normal intellect and behaviour. Magnetic resonance imaging identifies and gives a detailed anatomical picture of these lesions. Direct surgery, using microsurgical techniques and neuronavigation guidance has been used for these lesions. Three surgical approaches have been used, one lateral pterional, another midline frontal through the lamina terminalis and a third is a transcallosal interforniceal approach. In addition a disconnection procedure, usually pterional, aims to disconnect the lesion without the risks of major resection. The transcallosal interforniceal approach is the most successful with 69% of patients seizure‐free. There are complications in about 24% of patients, the same as other approaches, but the complications are milder and include fewer neurological deficits than the other routes. Alternate strategies include stereotactic radiosurgery and radiofrequency ablation under stereotactic control.
Efficacy of levetiracetam in partial seizures
Authors: Devinsky Orrin , Elger Christian
Published: March 2024

Controlled clinical trials and routine clinical practice demonstrate that levetiracetam is effective as add‐on therapy and appears to allow for withdrawal to monotherapy in patients who respond well in the add‐on setting. In pivotal clinical trials of adjunctive therapy with levetiracetam 1000 to 3000 mg/day (pooled data), 40% to 54% of patients experienced a 50% or greater reduction in seizure frequency, compared with 18% to 28% of patients treated with placebo. The median percent reduction from baseline in seizure frequency ranged from 36% to 68% for levetiracetam, versus 10% to 23% for placebo. Seizure freedom was achieved by 11% to 35% of those in the levetiracetam treatment group, compared with 3% to 18% of those in the placebo group. (All comparisons statistically significant versus placebo for simple partial, complex partial, and secondarily generalized seizures except for percentage of seizure‐free patients with simple partial seizures.) Clinical observations are consistent with these findings.
Role of levetiracetam in the treatment of epilepsy
Authors: Brodie Martin J. , French Jacqueline A.
Published: March 2024

Physicians treating patients with epilepsy have a host of therapeutic options. Drug choice is dictated first by the seizure(s) and/or epilepsy syndrome. Age is also a factor. Special considerations apply to women, particularly during their childbearing years, and to patients who are learning‐disabled. Drug selection is further influenced by such characteristics as spectrum of activity, rapid response, low potential for drug‐drug interactions, and ease of use. In addition to clinical trial data, postmarketing assessments of the new antiepileptic drugs provide useful clinical information on efficacy and safety. Levetiracetam has specific characteristics that make it an optimal choice for many patient populations.
Etiological classification of CNS malformations: integration of molecular genetic and morphological criteria
Authors: Sarnat Harvey B. , Flores‐Sarnat Laura
Published: March 2024

Classification is a creative activity that helps us understand relationships. The traditional classifications of central nervous system malformations was based exclusively upon descriptive morphology, but these criteria must now be integrated with molecular genetic data to enable an etiological classification that also remains useful to the clinician, radiologist and pathologist, who rely upon imaging and tissue examination for diagnosis. Many cerebral malformations previously thought to be a single disorder are now known to be common end‐results of several independent genetic mutations. Examples are holoprosencephaly and lissencephaly. Gradients of genetic expression along the axes of the neural tube, established at the time of gastrulation, may explain many varieties or anatomical and clinical manifestations of cerebral malformations, including the involvement of non‐neural tissues such as in midfacial hypoplasia, that may be attributed to abnormal neural crest migration. Genes of cellular lineage and of symmetry may explain some hamartomatous malformations, such as tuberous sclerosis and hemimegalencephaly. Modern classification should be applicable to the entire CNS as well as regions; schemes that attempt to artificially isolate the cerebral cortex for a “regional classification” may be erroneous even though the genetic defect primarily affects cortical structures because genetic gradients in the neuraxis are excluded and some involve a more subtle but still important expression in subcortical structures.
Epileptiform synchronization in the human dysplastic cortex
Authors: Avoli Massimo , Louvel Jaques , Mattia Donatella , Olivier André , Esposito Vincenzo , Pumain Renè , D'Antuono Margherita
Published: March 2024

Taylor's focal cortical dysplasia corresponds to a localized disruption of the normal cortical lamination with an excess of large, aberrant cells. Sustained epileptic discharges originate from the dysplastic neocortex and this tissue retains sufficient connectivity for expressing seizure abnormalities. In this brief review, we summarize the findings obtained by analyzing surgicallyresected human tissue with focal cortical dysplasia that was maintained
in vitro
in a brain slice preparation. These data have been compared with those obtained from human cortex with normal structural organization; such tissue was available from patients undergoing surgery for a variety of neurological disorders, most often for mesial temporal lobe epilepsy. These studies have shown that: (i) slices obtained from focal cortical dysplastic tissue have an intrinsic ability to generate ictal‐like epileptiform events when challenged with the convulsant drug 4‐aminopyridine; (ii) 4‐aminopyridine‐induced ictal discharges are not seen in neocortical slices obtained from neocortical samples with no or minimal structural lesion; (iii) these ictal discharges are caused by the activation of excitatory amino acid receptors, and in particular those of the N‐methyl‐D aspartate type; (iv) focal cortical dysplastic tissue also generates synchronous potentials that are mainly contributed by GABA
A
receptormediated conductances.
Benign idiopathic occipital epilepsy: report of a case of the early benign type
Authors: Thomas Pierre , Arzimanoglou Alexis , Aicardi Jean
Published: March 2024

We report the electro‐clinical characteristics of a case with Gastaut type idiopathic occipital epilepsy. The visual seizures, a cardinal feature of the syndrome, are described and illustrated by video sequences. A number of stereotyped seizures are shown where the child, an 11 years old boy, clearly describes the visual phenomena experienced. Prognosis of this common form of partial idiopathic epilepsy is relatively good but, as in our case, seizures may be very frequent during a long period of time. In such cases the term ‘benign’ is probably not the most appropriate [published with video sequences].
Morphological neuroimaging of malformations of cortical development
Authors: D'Incerti Ludovico
Published: March 2024

Malformations of cortical development are classified on the basis of imaging features and stages of cortical development. They are grouped by causes of the malformation: abnormal glial and neuronal proliferation, abnormal neuronal migration and abnormal cortical organisation. Focal or multifocal and generalised forms are recognised in each of these groups. In the first group, generalised forms include microlissencephalies. Among focal‐multifocal abnormalities, neoplastic forms include ganglioglioma and dysembryoplastic neuroepithelial tumours. Non‐neoplastic forms include focal cortical dysplasia and tuberous sclerosis. Malformations due to abnormal migration include lissencephalies; cortical heterotopias are recognised in both focal and generalised forms. Abnormal cortical organisation includes polymicrogyria, in generalised or focal forms, and schizencephalies among the focal forms.
The mortality of epilepsy revisited
Authors: Gaitatzis Athanasios , Sander Josemir W
Published: March 2024

Epilepsy carries a significant mortality that, on average, is 2‐3 times higher than in the general population. Causes of death in epilepsy are presented. Mortality in epilepsy is assessed by means of particular parameters; the mortality rate, the standardised mortality ratio, and the proportional mortality rate. An overview of their use and significance is given here. A number of epidemiological studies have assessed mortality in people with epilepsy in the general population and in populations from hospitals, out‐patient departments, and epilepsy centres. Methodological issues concerning the study of mortality in these populations are discussed. Epidemiological data are presented to describe the overall and cause‐specific mortality, as well as determinants of mortality in epilepsy, such as epilepsy and seizure types, time from diagnosis, and age. It has become clear from population studies with long‐term follow‐up that epilepsy has a higher mortality in the first few years after diagnosis that tends to decrease over time. The pattern of mortality in epilepsy can reflect the underlying conditions causing epilepsy or be associated with the effect of seizures. Emphasis is given to preventable causes of death in epilepsy, such as sudden unexpected death in epilepsy and suicide, which are discussed more extensively. The size of the problem and measures to avoid more deaths in epilepsy are discussed in the light of recently published data.
Unruptured intracranial aneurysm as a cause of focal epilepsy: an excellent postoperative outcome after intra‐arterial treatment
Authors: Kuba Robert , Krupa Petr , Okáčová Lenka , Rektor Ivan
Published: March 2024

This report involves a patient suffering from focal epilepsy caused by an unruptured, intracranial aneurysm (UIA), and her treatment using intravascular embolisation, with an excellent postoperative outcome in terms of the epilepsy. A 52 year‐old, right‐handed woman had been suffering for three years from focal seizures, characterized by loss of consciousness, and oroalimentary and hand automatisms. The epilepsy was not controlled by carbamazepine monotherapy. Magnetic resonance imaging and digital subtraction angiography revealed a saccular aneurysm at the bifurcation of the middle cerebral artery, in contact with the cortex of the temporal opercular region. An intra‐arterial embolisation, using a detachable, mechanical spiral (MDS, Bold Platinum), was performed, with no complications. The purpose of embolisation was the treatment of the aneurysm. The patient had two more, complex partial seizures (CPS) in the early postoperative period, but was seizure‐free between September 1998 and September 2002. This is the first case report that presents the successful treatment of UIA‐related epilepsy by means of intravascular embolisation.
Rasmussen's encephalitis
Authors: Hart Yvonne
Published: March 2024

Rasmussen's encephalitis, a syndrome characteristically presenting in children with the onset of partial motor seizures followed by progressive hemiparesis and cognitive impairment, and accompanied by unilateral cerebral atrophy, was described nearly 50 years ago, yet the cause and optimum treatment remain unclear. Although it was originally presumed to have a viral aetiology, the possible roles of antibody‐mediated mechanisms and more recently cell‐mediated immunity in its pathogenesis have come under increasing scrutiny in the last ten years. These developments are discussed, together with a review of the clinical features. The advances in treatment which have accompanied these changes are also assessed.
An unusual case of neurocutaneous melanosis
Authors: de Andrade Daniela Oliveira , Dravet Charlotte , Raybaud Charles , Broglin Dominique , Laguitton Virginie , Girard Nadine
Published: March 2024

The neurocutaneous melanosis (NCM) is a rare, neuroectodermal dysplasia defined by the association of giant or multiple, nonmalignant pigmented cutaneous nevi with leptomeningeal melanosis or melanoma. As a rule, the cerebral pathological substratum is characterized by a melanocytic infiltration of the leptomeninges, often leading to hydrocephalus. The most frequent clinical symptomatology starts early in life, with convulsive seizures, psycho‐motor delay, intracranial hyperpression: the prognosis is severe. Malignant melanomas can also occur. One 21 years‐old patient affected by NCM with a giant bathing nevus and epilepsy is reported. Her psychomotor development was slightly delayed. Academic progress was disturbed by the frequency of seizures and the multiple dermatological surgeries, and she remained at the elementary school level. Her epilepsy appeared at seven years and became pharmacoresistant. It was a focal, left temporal epilepsy. Neuroimaging investigations were performed repeatedly, and demonstrated the progressive appearance of parenchymal lesions with T1 and T2 shortening, without contrast enhancement, at the pons (11 years), the two hippocampi (14 years), and of an atrophy of the cerebellum and the brainstem (19 years). No hydrocephalus, tumoral aspect, or meningeal involvement were demonstrated. This patient's case is peculiar because her neurological symptomatology consists only of focal epilepsy, unrelated to a tumor, with moderate cognitive impairment despite a rather long course of the disease. Her evolution raises the question of condidency to surgical treatment. [Published with videosequences]
The roles of electroencephalography and neuroimaging in children with holoprosencephaly
Authors: Yang Ming‐Tao , Lee Wang‐Tso , Peng Steven Shinnforng , Lin Haung‐Chi , Tseng Chao‐Lin , Liang Jao‐Shwann , Wang Peng‐Jung , Shen Yu‐Zen
Published: March 2024

We analyze the respective roles of neuro‐imaging and EEG in the assessment of 11 children with holoprosencephaly and epilepsy. Seizures were present in seven patients (64%) ; six were treated with antiepileptic drugs ; five had intractable epilepsy. Two of the patients with intractable epilepsy became seizure‐free under polytherapy. Fourteen EEG recordings were performed in eight patients. The abnormal EEG findings included slow waves, focal epileptiform discharges, slow spike‐and‐wave complexes, hypsarrhythmia, frontal fast activity, fronto‐occipital gradients of amplitudes (posterior amplitude attenuation), lack of photic driving, periodic discharges, and extremely large amplitudes. A fronto‐occipital gradient was found only in alobar and semilobar holoprosencephaly (HPE), while hypsarrhythmia only in lobar HPE. Lack of photic driving was found only in alobar HPE. All EEGs showed diffuse slow waves, and all patients had severe developmental delay. The Deep Gray Score (DGS) in neuroimaging studies, thought to predict clinical outcome, was irrelevant given the presence and intractability of the epilepsies. Patients with higher DGS, nonetheless, tended to have higher mortality rate. In conclusion, EEG evaluation provides additional functional information to neuroimaging studies in the assessment of neurological outcome in patients with HPE. With a more mature and well‐formed cerebrum, as found in the lobar and semilobar types, the possibility of hypsarrhythmia and photic driving increased, while that of fronto‐occipital gradients decreased.