bluuebunny/crossref_metadata_2025 huggingface dataset:
EEG characteristics in juvenile Huntington's disease: a case report and review of the literature
Authors: Landau Mark E. , Cannard Kevin R.
Published: March 2024

The clinical features of Juvenile Huntington's Disease (J‐HD) differ from those of the more common adult‐onset form, and include cognitive decline, parkinsonism, myoclonus and seizures. A paucity of literature is available describing the electroencephalographic (EEG) findings. We describe the clinical and EEG characteristics of a patient with genetically confirmed J‐HD. A review of previously published cases yielded EEG descriptions in only 23 patients whose disease onset was prior to the age of 32, and only 14 of these were prior to the age of 20. Epileptiform abnormalities were noted in 17 (74%), which was considerably more common than in the adult form. Generalized discharges were noted in nine, with six having polyspike and wave. The remainder had focal or multifocal epileptiform discharges. With genetic testing now available, refinement of the EEG data will be possible.
Hypothalamic hamartoma and epilepsy in children: illustrative cases of possible evolutions
Authors: Arzimanoglou Alexis A. , Hirsch Edouard , Aicardi Jean
Published: March 2024

The progresses of neuroimaging have allowed an earlier detection of hypothalamic hamartoma in children presenting with gelastic or dacrystic seizures. Associated symptoms can include other types of seizures, precocious puberty, and behavioral or cognitive deterioration. Combination of all these features is not constant and, when present, their evolution may be variable. When epilepsy proves intractable, surgery may be a solution but is not without risks. Therefore, it can only be justified on the basis of a considerable degree of certainty on the progressive character of the disorder, both in terms of epilepsy and global development.

Even though epilepsy is a major and usually the most important problem, it is not always possible to predict its course and to be able to evaluate its potential effects on development. Available data suggests that deterioration is partly related to the epileptogenic activity.

We reviewed data from 16 personal cases and discussed the possible evolutions of the epilepsy syndrome on the basis of 6 illustrative cases and a review of the literature. We point out that seizures may start early in life and evolve either towards a catastrophic encephalopathy or may be transiently severe and will progressively settle down. Intermediate situations also exist as well as cases presenting with a mild epilepsy. In almost all cases cognitive difficulties are present and may be associated with behavioral disturbances. They are of variable severity, usually in relation to the severity of the epilepsy and the evolution of the EEG abnormalities. Some of our cases also illustrate that, in young children whose seizures are limited to “a sensation of a pleasant feeling”, “a pressure to laugh” or “smiling”, early detection of the hamartoma may still be difficult and the epilepsy pattern may be misdiagnosed as an epilepsy temporal or frontal origin. Detailed analysis of the electro‐clinical evolution of representative cases highlights the variable expression of the epilepsy syndrome and renders difficult any dogmatic position on early surgery. However, recent data suggests that a surgical solution must be sought early. Prospective studies are needed to evaluate, not only outcome in terms of control the seizures without unacceptable side effects but also on the evolution of the cognitive and behavioral profile of children with HH and epilepsy are needed.[published with videosequences]
From hypothalamic hamartoma to cortex: what can be learnt from depth recordings and stimulation?
Authors: Kahane Philippe , Ryvlin Philippe , Hoffmann Dominique , Minotti Lorella , Benabid and Alim Louis
Published: March 2024

Patients having a hypothalamic hamartoma (HH) frequently present gelastic or dacrystic seizures, and they often later experience multiple additional seizure types which lead to a severe epileptic encephalopathy. There is now increasing evidence that the HH itself plays a crucial role in this syndrome, but the relationships between the lesion and the different types of seizures remain a questionable issue.

Stereotactic intracerebral EEG recordings were performed in 5 patients suffering from a medically intractable epilepsy associated with a HH. The hamartoma was investigated in all cases, and various cortical areas were also evaluated in 4 of the 5 patients. The epileptic discharges arose and remained confined within the hamartoma in 3 of the 4 patients in whom laughing and crying episodes were recorded. In addition, interictal spikes were recorded from the hamartoma in 4 of the 5 patients, whereas the stimulation of the HH could reproduce gelastic or dacrystic episodes in 3.

The three patients in whom other types of seizure were recorded showed that the latter were associated with cortical ictal discharges not affecting the HH. Ictal onset appeared either bifrontal, right fronto‐central and lateral temporal, or bifrontal with a right side predominance. The cingulate gyrus was involved in all these 3 cases, and the lateralization of the ictal discharges was always ipsilateral to the predominating side of the hamartoma. Interestingly, these seizure types were sometimes immediately preceded by the laughing or crying attacks, as if ictal discharges within the hamartoma triggered those which seemed to originate in the cortex.

Therefore, if these findings confirm the intrinsic epileptogenicity of HH, they also demonstrate that epileptic seizures associated with HH can exhibit different types of electroclinical patterns. We propose a speculative pathophysiology in which the mamillo‐thalamo‐cingulate tract would serve as a relay of HH discharges towards the cortex, the excitability of which would then progressively increase, first leading to cortical interictal epileptiform abnormalities and then to seizures of cortical origin. Whether this proposal of secondary epileptogenesis is valid or not remains a major issue, since it could provide arguments on the moment to discuss surgery.
Malformation of cortical development in adult patients
Authors: Tinuper Paolo , d'Orsi Giuseppe , Bisulli Francesca , Zaniboni Anna , Piraccini Antonella , Bernardi Bruno , Baruzzi Agostino
Published: March 2024

Few studies have focused on the clinical, neurophysiological and prognostic features of adult epileptic patients with malformation of cortical development. We reviewed the clinical data of a series of sixty adult epileptic patients with different types of malformation of cortical development, who had been followed at the Epilepsy Centre of the Department of Neurological Sciences of the University of Bologna, with particular attention to age at seizure onset, mental retardation, response to therapy, and EEG features. The heterogeneity of our population, especially when divided into the different groups of malformation of cortical development, precluded any general conclusions, but we stress the following aspects: 1) epilepsy due to malformation of cortical development may begin in adolescents and young adults; 2) epileptic seizures with clinical and polygraphic features of infantile spasms may persist into adulthood; 3) complex cortical malformation is not necessarily associated with severe epileptic encephalopathy. In periventricular nodular heterotopias, the largest in our series (nine patients), age at onset of seizures, response to therapy and mental deterioration differed according to the presence of nodules confined to the ventricular wall (‘pure’ form) or periventricular nodules associated with other cerebral cortical malformations ('plus' form).
Stereo‐EEG: the Sainte‐Anne experience in focal cortical dysplasias
Authors: Chassoux Francine
Published: March 2024

Focal cortical dysplasias represent a cause of intractable epilepsy that can be cured by surgery if complete lesional resection can be performed. However, the lesional limits are difficult to assess by imaging, and some focal cortical dysplasias can be missed by magnetic resonance imaging. The combination of high‐resolution magnetic resonance imaging and neurophysiological findings provided by direct intra‐lesional recordings has greatly improved diagnosis and surgical outcome in focal cortical dysplasias. Stereo‐EEG has demonstrated that dysplastic areas show continuous spiking activity persisting after diazepam injection and are the site of ictal discharge onset. Surgery guided by stereo‐EEG made seizure‐free outcome possible for all patients recently investigated and who had undergone surgery in our centre for extra‐temporal partial epilepsy associated with focal cortical dysplasias (10 patients, mean follow‐up: 15 months). Moreover, we demonstrated that limited resections can be performed safely in eloquent cortex without permanent disability. These results demonstrate the usefulness of stereo‐EEG in surgical treatment for focal cortical dysplasias, despite the invasive nature of this procedure.
Familial severe myoclonic epilepsy of infancy: truncation of Na
v
1.1 and genetic heterogeneity
Authors: Gennaro Elena , Veggiotti Pierangelo , Malacarne Michele , Madia Francesca , Cecconi Massimiliano , Cardinali Simonetta , Cassetti Alessandra , Cecconi Ilaria , Bertini Enrico , Bianchi Amedeo , Gobbi Giuseppe , Zara Federico
Published: March 2024

Background

Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome has been long suspected of having a genetic origin. Recently, mutations in
SCN1A
and
GABRG2
have been described in SMEI patients. The sporadic nature of the SMEI syndrome and the occurrence of
SCN1A
and
GABRG2
mutations in a mild familial phenotype, termed
generalized epilepsy with febrile seizure
plus complicates genotype‐phenotype correlations. In order to further investigate the role of
SCN1A
and
GABRG2
in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome.

Methods

Clinical criteria followed the international classification of epileptic syndromes. Mutational screening of
SCNIA
and
GABRG2
genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram.

Results

Thirty‐eight fragments spanning 26 exons of
SCN1A
and nine exons of
GABRG2
were analysed in three probands. Five variant chromatograms were identified; four corresponded to known polymorphisms, one to a novel dinucleotide insertion on exon 26 of
SCNIA.
The mutation leads to a frameshift and a premature stop codon at amino acid 1 779 of the protein. The mutation was present in the affected sibling and was inherited from the mother who had experienced a single febrile seizure in childhood.

Conclusions

Among three families analysed, a single family was mutant for
SCNIA.
Our study suggests that the syndrome is genetically heterogeneous. The variable expressivity we observed for the
c5240insAA
mutation suggests that other factors are needed for the development of the full SMEI phenotype.
Benign familial and non‐familial infantile seizures: a study of 64 patients
Authors: Caraballo Roberto Horacio , Cersósimo Ricardo Oscar , Espeche Alberto , Fejerman Natalio
Published: March 2024

Introduction

The recently proposed diagnostic scheme for people with epileptic seizures and with epilepsy (
Epilepsia 2001
) includes two idiopathic focal epileptic syndromes with onset during the first year of life, the benign familial and non‐familial infantile seizures.

Objective

To analyze the electroclinical features and evolution in patients with benign familial and non‐familial infantile seizures.

Patients and methods

Sixty‐four patients (36 males and 28 females) were evaluated at the Neurology Department of the J. P. Garrahan Children's Hospital between February 1990 and December 2001. We analyzed gender, age at onset, duration, manifestations, circadian distribution and frequency of seizures, family history of epilepsy and paroxysmal dyskinesias. EEG and neuroradiological studies were performed. The semeiology of the seizures was analyzed only according to the description in the clinical history. Ictal EEGs could not be recorded.

Results

Twenty‐five patients, 14 girls and 11 boys, had a family history of similar seizures with an age at seizure onset of 3 to 22 months (median of 5.5 months). Nine patients (36%) had apparently generalized convulsions only; five patients (20%) partial seizures only and ten patients (50%) had both partial and generalized seizures. Convulsions were brief, during wakefulness in all, and occurred in clusters in 12 patients (48%). Interictal EEG was normal in 24 patients (96%).

Similar seizures and age at onset were found in 14 fathers, ten mothers and one uncle of these patients. Twenty‐two patients (88%) had their last seizure before the age of 30 months. Two siblings of the same family later had brief episodes of paroxysmal kinesigenic dyskinesia, which in one of them were associated with infantile seizures. Later, two fathers developed paroxysmal kinesigenic dystonia. One of them also had had infantile seizures. A second group of 39 patients (25 boys and 14 girls) showed similar electroclinical features and evolution but there was no history of infantile seizures in first‐degree relatives family history of epilepsy was found in 12.8% of second‐degree relatives, but the type of epilepsy could not be defined.

Conclusion

This study comfirms the existence of a familial benign epileptic syndrome in infancy, of probable dominant autosomical transmission.

A large group also had similar electroclinical features but without a family history. We discuss the possible relationships between the two groups and suggest that further genetic studies may solve the problem.
Pre‐clinical studies with the GABAergic compounds vigabatrin and tiagabine
Authors: Sills Graeme J
Published: March 2024

In the last decade, nine new antiepileptic drugs have reached the global marketplace. These new agents can be categorised according to their principal mechanisms of action. Vigabatrin and tiagabine are the only new compounds with selective effects on inhibitory neurotransmission. The principal inhibitory neurotransmitter in mammalian brain is γ‐aminobutyric acid (GABA). Both vigabatrin and tiagabine exert their pharmacological effects by reducing the inactivation of GABA. Vigabatrin attenuates the metabolism of GABA by inhibiting the enzyme GABA‐transaminase, whereas tiagabine blocks the uptake of GABA from the synaptic cleft by an action on the GAT‐1 transporter. These mechanistic differences are borne out in a range of experimental seizure models in which vigabatrin and tiagabine have very different anticonvulsant profiles. Pre‐clinical neurotoxicity and pharmacokinetic profiles also differ. Long‐term vigabatrin treatment is associated with intramyelinic oedema in white matter tracts of several brain regions and further studies have revealed an accumulation of vigabatrin in the retina. In contrast, it seems that tiagabine does not precipitate any significant neurotoxicity and does not appear to accumulate in the retina. The results of these pre‐clinical investigations suggest that vigabatrin and tiagabine are pharmacologically distinct compounds with different anticonvulsant, neurotoxicity and pharmacokinetic profiles. It is possible that they will ultimately prove to have different clinical efficacies and spectra of activity.
Paroxysmal autonomic alterations mimicking epilepsy: a case report
Authors: Uluc Kayihan , Saygi Serap , Yilmaz Arda , Nurlu Gulay
Published: March 2024

A 22‐year‐old male patient presented with paroxysmal hyperhidrosis, mydriasis, hypertension, and tachycardia. Cranial and cervical MRI revealed focal atrophy in the high order zone of the central autonomic network and syringomyelia. His physical and neurological examinations were unremarkable. Physiological testing included EEG, SPECT, serum/urine tests and autonomic testing. A poor response was achieved with the medical and interventional procedures employed. As the central autonomic network is an integral component of the internal regulation system of the brain, any lesion, no matter where in the network, may lead to paroxysmal autonomic alterations mimicking epilepsy (Published with videosequences).
Stuttering or reflex seizure? A case report
Authors: Michel Véronique , Burbaud Pierre , Taillard Jacques , Gaida Tsouria , Joseph Pierre Alain , Duché Bernard , Bioulac Bernard
Published: March 2024

Stuttering is characterized by involuntary syllabic repetitions and interruption in the smooth flow of speech. The exact cause of primary stuttering remains a matter of debate but a frontal dysfunction has been evoked. On the other hand, acquired stuttering is uncommon. We report a case of reflex epilepsy in which seizures were triggered by reading aloud or stressful conversation. Each paroxysmal event in left frontal region was associated clinically with a language disorder mimicking stuttering. Our observation suggests that reflex frontal focal epilepsy could be a putative etiology for acquired stuttering. [published with videosequences]
The role of PET in presurgical assessment of partial epilepsies
Authors: Mauguière François , Ryvlin Philippe
Published: March 2024

In the presurgical assessment of drug refractory partial epilepsies PET represents a privileged means for investigating glucose metabolism and neurotransmission in the functional‐deficit zone, defined as the region of cortex that is functioning abnormally in the interictal period. Another aim of PET investigation is to produce images of neurotransmission abnormalities underlying neuronal hyperexcitability, and thus to allow direct visualization of the epileptogenic zone. This approach has been mostly based on the binding of various radio‐ligands on specific receptors (GABA‐A, opiate and serotonin receptor) and on brain uptake of serotonin precursors. These attempts have not yet been fully validated, in spite of promising studies of serotonin synthesis and receptors. Consequently, at the present state of their development, most of the PET techniques routinely used, reflect changes that are not directly related to the epileptogenic process itself. The lack of large multicentric controlled studies, evaluating the impact of PET, represents the main limitation to a better understanding of the clinical role and utility of PET in epilepsy. We review the basic aspects and limitations of the technique, the various radiopharmaceuticals that have been tested in epilepsy, the sensitivity of the different types of PET investigations, the pathophysiolgy of PET abnormalities and discuss the practical utility of PET imaging in presurgical assessment of partial epilepsies.
Quand et comment rechercher une maladie neurologique devant une épilepsie de l'enfant d'allure cryptogénique ?
Authors: Echenne B. , Roubertie A. , Humbertclaude V. , Rivier F.
Published: March 2024

Nous présentons une proposition de démarche diagnostique et d'enquête étiologique devant une épilepsie cryptogénique de l'enfant, âgé de 1 an et plus. Selon qu'il s'agit d'épilepsie généralisée, partielle ou mal typée, un schéma d'enquête étiologique est proposé, tenant compte de l'âge des patients et des types de crises observées, en insistant sur les causes métaboliques rares, et certaines aberrations chromosomiques.
Crises et épilepsies vasculaires
Authors: Rumbach Lucien
Published: March 2024

Près de 10 % des patients avec accident vasculaire cérébral (AVC) vont présenter une crise d'épilepsie dans les suites soit immédiates, précoces ou plus tardives d'un AVC. L'AVC est la première cause de la survenue de crises d'épilepsie chez le sujet âgé, les crises étant elle‐mêmes une des séquelles les plus fréquentes des AVC. L'AVC hémorragique est plus souvent en cause que l'AVC ischémique. Dans cet article, nous insistons sur divers points : l'épidémiologie, les facteurs favorisants, la sémiologie, le suivi et la récurrence, la prise en charge thérapeutique. Des études prospectives restent nécessaires pour répondre à plusieurs questions.
L'épilepsie alcoolique
Authors: Bartolomei Fabrice
Published: March 2024

Si les liens entre alcool et crises sont maintenant bien prouvés, le cadre clinique des crises liées à l'alcool reste discuté. Les crises liées à l'alcool sont souvent considérées comme des crises liées au sevrage. Il existe toutefois des arguments à la fois expérimentaux et cliniques pour envisager une véritable épileptogenèse sous l'effet d'une alcoolisation chronique. Les mécanismes possibles font intervenir un effet de l'alcool sur les systèmes neurobiologiques régulant l'excitabilité neuronale et un effet
kindling
probable. Une classification en différents stades évolutifs a été proposée, les crises de sevrage et les crises aléatoires traduisant des degrés différents d'évolution du processus épileptogène.
Symptoms of narcolepsy in children misinterpreted as epilepsy
Authors: Macleod Stewart , Ferrie Colin , Zuberi Sameer M.
Published: March 2024

Differentiating an epileptic seizure from some other paroxysmal event is a common challenge in clinical practice. Many paroxysmal events mimic epileptic seizures and misdiagnosis can have disastrous consequences. Incorrectly identifying an event as an epileptic seizure can lead to unnecessary investigations and instigation of inappropriate treatment regimes. We report five patients referred to regional Paediatric Neuroscience Centres for investigation of events initially suspected of being epileptic seizures. All five patients were subsequently diagnosed as having narcolepsy. Suspected diagnoses were absence epilepsy (four patients), generalized epilepsy with astatic seizures (two patients) and focal epileptic seizures (two patients). Diagnostic confusion arose because lack of responsiveness due to excessive sleepiness was mistaken for epileptic absences, and cataplexy was confused with a variety of seizure types. In each case, videotape recording of clinical events aided in making the diagnosis of cataplexy. At presentation, all five children had excessive daytime sleepiness with cataplexy. Following correct diagnosis and appropriate management, an improvement in symptoms was reported in all cases. Narcolepsy/cataplexy should be included in the differential diagnoses of paroxysmal disorders, particularly if there are associated sleep symptoms or behavioural difficulties. It is important to take a sleep history when evaluating any disorder of the central nervous system. [Published with videosequences]
Psychometric validation of the French version of the side‐effects and life satisfaction inventory (SEALS) in epileptic patients: comparison with the QOLIE‐31 inventory and a generic quality of life questionnaire
Authors: Hasnaoui Abdelkader El , Crespel Arielle , Daurès Jean‐Pierre , Baldy‐Moulinier Michel , Picot Marie‐Christine
Published: March 2024

A psychometric evaluation of a French version of the side‐effects and life satisfaction inventory (SEALS) was carried out. SEALS was compared to the quality of life in epilepsy‐31 questionnaire (QOLIE‐31) and a generic, health‐related quality‐of‐life questionnaire, the Nottingham health profile (NHP). The psychometric properties of SEALS, assessed in 190 adult subjects with epilepsy, included: acceptability, test‐retest reliability and validity, multitrait analysis including internal consistency and item‐to‐scale correlations, construct validity using factor analysis and discriminative validity using associations with disease characteristics and treatment effects, and, correlations with NHP and QOLIE‐31 scores for convergent and divergent validity. Both acceptability and reproducibility were good and internal consistency was high (Cronbach's a coefficient = 0.92). Factor analysis with varimax rotation identified five factors: the first, related to cognitive function accounted for 26.0% of the variance. Discriminative validity was good for most treatment characteristics (tolerability, seizure control, compliance) and clinical features (epilepsy type, seizure frequency and severity, depressive symptoms). Correlations with the NHP and QOLIE‐31 scores were consistently strong. It was concluded that the psychometric properties of the French translation of SEALS were similar to the original English version. In addition, SEALS provides information on quality of life that is complementary to that obtained with QOLIE‐31. In particular, with respect to the QOLIE‐31, the SEALS provides information on cognitive and neuropsychological aspects of impairment of quality of life, whereas the QOLIE‐31 has a broader scope, taking into account multiple aspects of quality of life in epilepsy.
Language‐ and praxis‐induced jerks in patients with juvenile myoclonic epilepsy
Authors: Sousa Patrícia da Silva , Lin Katia , Garzon Eliana , Sakamoto Américo Ceiki , Yacubian Elza Márcia T.
Published: March 2024

Reflex traits have been described in patients with idiopathic generalized epilepsy. We report on four patients with juvenile myoclonic epilepsy in whom the coexistence of praxis‐ and language‐induced jerks was documented in video‐polygraphic EEG recordings.
[Published with video sequences]
Making sense of non‐epileptic seizures
Authors: Gene‐Cos Nuri , Ring Howard A.
Published: March 2024

Background

Non‐epileptic seizures (NES) are a chronic condition that is frequently misdiagnosed. Limited awareness of the condition may contribute to mismanagement and poor outcome.

Methods

Medline and PsycLit review of clinical and laboratory studies.

Results

The concept of NES is clarified, common clinical presentations are reviewed and the differential diagnoses considered. A general overview of possible mechanisms and pathological findings is presented. Finally, epidemiological, prognostic, and treatment issues are described.

Conclusions

Clinicians increased awareness of NES, together with new diagnostic techniques will improve diagnosis and outcome of this condition. Further research is needed into the pathophysiology, etiology and maintenance mechanisms of non‐epileptic seizures.
Post‐ictal rage and aggression: a video‐EEG study
Authors: Yankovsky Alexei E. , Veilleux Martin , Dubeau François , Andermann Frederick
Published: March 2024

Post‐ictal rage and aggression have been mentioned in the literature but have rarely been documented by video‐EEG recording. We studied a patient with dramatic, episodic, seizure‐related rage and violence. This mentally retarded man had a lifelong history of seizures. He developed increasing episodic rage and aggression. Caregivers were afraid of him, although there was no record of directed violence. In one of these episodes he fractured his tibia and fibula. Interictal discharges arose from both temporal areas independently. He had focal seizures with secondary generalization. Immediately after cessation of the ictal discharge he became greatly agitated, with undirected aggression, loud screaming, kicking and fighting against the restraints. A video sequence illustrates the behavior. Imaging studies showed bilateral, periventricular, nodular heterotopia in the lateral aspect of both temporal horns and the trigones. Increasingly frequent, severe bursts of rage and aggression were proven to be post‐ictal. Documented attacks occurred while he was restrained and this may have been a factor in their severity. Such attacks however, have been described while he was not restrained and these increased in severity and frequency over time. Developmental abnormalities with periventricular, nodular heterotopia in the region of the trigones and inferomesial temporal areas are considered to be causally related to his retardation and epilepsy.
[Published with video sequences]
Chromosomal disorders associated with epilepsy
Authors: Battaglia Agatino , Guerrini Renzo
Published: March 2024

Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro‐clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of individuals previously diagnosed as having “cryptogenic” epilepsy will turn out to have an underlying chromosomal aberration. We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy.
Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes
Authors: Di Bonaventura Carlo , Fattouch Jinane , Mari Francesco , Egeo Gabriella , Vaudano Anna Elisabetta , Prencipe Massimiliano , Manfredi Mario , Giallonardo Anna Teresa
Published: March 2024

Clinical experience in open‐label studies and anectodal reports suggest that levetiracetam is effective in generalized epilepsy. In this open‐label prospective study, 19 patients (3 men, 16 women) affected by idiopathic generalized epilepsy were followed for at least 6 months following the introduction of levetiracetam. Patients were categorized according to syndrome subtype: juvenile myoclonic epilepsy (8), juvenile absence epilepsy (5), childhood absence epilepsy (4), and eyelid myoclonia with absences (2). Eleven patients received levetiracetam as monotherapy, eight as add‐on therapy. Effectiveness was demonstrated in 18 patients: 13 became seizure‐free (five juvenile myoclonic epilepsy, five juvenile absence epilepsy, three childhood absence epilepsy), and five achieved significant reductions in seizure frequency (three juvenile myoclonic epilepsy, one childhood absence epilepsy, one eyelid myoclonia with absences). Only one patient experienced no change in seizure frequency (eyelid myoclonia with absences). Clinical improvement was accompanied by EEG abnormality suppression or reduction. Levetiracetam was well tolerated; no patient reported side‐effects.
Topiramate: a prospective study on the relationship between concentration, dosage and adverse events in epileptic patients on combination therapy
Authors: Fröscher Walter , Schier Katja R. , Hoffmann Markus , Meyer Andreas , May Theodor W. , Rambeck Bernhard , Rösche Johannes
Published: March 2024

Rationale

The relationship between topiramate (TPM) concentration, dosage and adverse events in patients with epilepsy is still controversial. We therefore performed a prospective study in patients with poorly controlled epilepsy treated with TPM, predominantly in combination with other antiepileptic drugs. The goal of the study was to investigate the relationship between the occurrence of adverse events due to TPM and its serum concentration or dosage, respectively.

Methods

The relationship between the occurrence of adverse events and TPM serum concentration or dosage, respectively, was examined in a group of 42 young adult and adult patients with poorly controlled epilepsy. Within 22 months, all patients treated with TPM had been included in the study. The 8 adverse events occurring most frequently (difference ≥ 10%) in TPM‐treated patients in 5, double‐blind, placebo‐controlled, parallel group studies, were checked regularly. This side effect profile has been presented by Reife
et al.
(1995a). Other possible or probable adverse events were also documented.

Results

The difference in TPM serum concentrations and TPM dosages (mg/kg) for patients without an adverse event, and patients with a given adverse event was statistically significant for “abnormal thinking, impaired concentration, weight loss, dizziness, speech problems, somnolence, ataxia, increased seizure frequency and paresthesia”. To avoid adverse events, we recommend an initial “maintenance serum concentration” of below 4 lg/mL. As regards the TPM dosage, our results suggest initial maintenance dosages of 100 TPM or lower, 1.5 mg/kg or lower, respectively. These conclusions are limited by the relatively small number of patients.
Nonconvulsive status epilepticus: Epilepsy Research Foundation Workshop Reports
Authors: Walker Matthew , Cross Helen , Smith Shelagh , Young Camilla , Aicardi Jean , Appleton Richard , Aylett Sarah , Besag Frank , Cock Hannah , DeLorenzo Robert , Drislane Franck , Duncan John , Ferrie Colin , Fujikawa Denson , Gray William , Kaplan Peter , Koutroumanidis Micheal , O'Regan Mary , Plouin Perrine , Sander Josemir , Scott Rod , Shorvon Simon , Treiman David , Wasterlain Claude , Wieshmann Udo
Published: March 2024

In April 2004, a group of physicians with an interest in nonconvulsive status epilepticus representing a spectrum of opinion met in Oxford, sponsored by the Epilepsy Research Foundation (a charitable organization), to discuss and debate the definition, diagnosis and treatment of nonconvulsive status epilepticus. We felt that such a meeting would be useful, as nonconvulsive status epilepticus is a subject that provokes strong reactions, perhaps largely due to the relative lack of evidence and the surfeit of opinion. The meeting was arranged such that there were formal talks followed by a discussion led by one of the attendees. We present here the extended abstracts of the main talks with the points raised by the discussants.

Despite disagreements on certain issues there was much in the way of consensus. First, it was agreed that nonconvulsive status epilepticus is a term that covers a range of disparate conditions with varying prognoses and treatments. The agreed definition was thus suitably vague, «Nonconvulsive status epilepticus is a term used to denote a range of conditions in which electrographic seizure activity is prolonged and results in nonconvulsive clinical symptoms». Secondly, it was agreed that even within a specific condition (
e.g.
complex partial status epilepticus), the prognosis and treatment depends upon the context in which the condition occurs (
e.g.
in the critically ill, in coma, in the «walking wounded» and in people with prior epilepsy). Perhaps, most importantly it was agreed that we lacked good clinical data, and the challenge was to design good studies for a condition that is underrecognised and often difficult to diagnose.
Tonic status epilepticus in patients with idiopathic generalized epilepsy
Authors: Kobayashi Eliane , Thomas Pierre , Andermann Frederick
Published: March 2024

Rationale

Tonic status epilepticus (TSE) in patients with idiopathic generalized epilepsy (IGE) is not well recognized. The objective of this study is to report episodes of TSE in patients with IGE.

Methods

We retrospectively reviewed the clinical and EEG evaluation of three IGE patients who presented TSE.

Results

The three patients had mainly clinical features of IGE, but had developed, in addition, focal discharges, diffuse EEG abnormalities and some focal or diffuse neuropsychological dysfunction. The tonic attacks eventually responded to treatment, but were not completely controlled in any of the patients.

Discussion

The continuum between IGE and secondary generalized epilepsy is demonstrated in these patients. Most of their clinical and EEG features are however, in keeping with an idiopathic generalized epileptic process with additional focal and diffuse components. Recognition of the significance of TSE in such patients has important therapeutic and prognostic implications.
[Published with video sequences]
A comparative study of mismatch negativity (MMN) in epilepsy and non‐epileptic seizures
Authors: Gene‐Cos Nuri , Pottinger Richard , Barrett Geoff , Trimble Michael R. , Ring Howard A.
Published: March 2024

This study investigated mismatch negativity (MMN) differences between subjects with non‐epileptic seizures (NES), subjects with epilepsy, and healthy controls. Event‐related potentials (ERPs) were obtained from 14 patients with NES, 15 patients with epilepsy and 16 healthy control subjects. A conventional MMN procedure was used with arandom sequence of 12% deviant tones (922 Hz) and 88% standard tones (1000 Hz). Subjects were instructed to ignore the tones delivered through headphones whilst reading a book. Significant differences in distribution of the mismatch negativity (MMN) in patients with NES compared to controls were obtained (F3, p ≤ 0.019; Cz, p ≤ 0.044) and longer MMN duration in patients with epilepsy compared with patients with NES (p ≤ 0.039) was observed. The change that has been analyzed is one of relative (or scaled) amplitude rather than absolute amplitude. These differences observed at Cz/F3 suggest an increase in emphasis of the MMN in the frontocentral region in patients with NES compared to healthy controls, suggesting that the MMN is generated in a different way in NES compared with controls. This could indicate that one of the normal MMN generator areas does not function normally in NES. Increased absolute amplitude of the MMN has previously been observed in anxiety disorders particularly in post‐traumatic stress disorder (PTSD). We discuss similarities between NES and PTSD, suggesting that the increased relative amplitude obtained in this study may be related to mechanisms of generation of NES. The prolonged duration of the MMN in epilepsy could be related to difficulties in processes associated with novelty discrimination (closure of MMN generating mechanism). This information processing dysfunction could be associated with the concentration and memory difficulties that are observed in some patients with epilepsy. This study provides electrophysiological evidence of abnormal processing of auditory stimuli in both clinical conditions when compared to healthy controls, and interictal differences between a group of patients with epilepsy and a group of patients with non‐epileptic seizures, as measured by the MMN.
Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?
Authors: de Haan Gerrit‐Jan , Pinto Dalila , Bertram Ed , Trenité Dorothee G.A. Kasteleijn‐Nolst , Koeleman Bobby P.C. , Lindhout Dick
Published: March 2024

The interplay of multiple genetic factors, as opposed to monogenic inheritance, is suspected to play a role in many idiopathic generalized epilepsies. This leads to a digenic or oligogenic inheritance model, which although rather simplified, may explain at least some of the clinical observations. Here we describe a family in which the clinical phenotype in the offspring can be explained by a combination of photosensitivity and epilepsy traits that segregated independently of each other. This case history demonstrates the need to evaluate family histories in more detail in order to uncover potential clinical markers for genetic factors in complex epilepsies.
Post‐ictal forceful yawning in a patient with nondominant hemisphere epilepsy
Authors: Yankovsky Alexei E. , Andermann Frederick , Dubeau François
Published: March 2024

Yawning has been rarely described in association with seizures and not previously documented by video‐EEG. We present a 48‐year‐old woman with a long history of non‐dominant
for speech
hemisphere seizures and post‐ictal yawning. Yawning was irresistible, forceful and often repetitive. We reviewed the few similar epileptic cases described in the literature and discussed the possible mechanisms.

[Published with video sequences]
Myoclonus relieved by carbamazepine in subacute sclerosing panencephalitis
Authors: Yiğit Aytaç , Sarikaya Sevda
Published: March 2024

A 20‐year‐old woman with subacute sclerosing panencephalitis, bedridden because of dystonic posturing and very frequent myoclonic involuntary movements, improved dramatically with carbamazepine. The favorable effect of the carbamazepine on myoclonus was demonstrated by discontinuing and reintroducing carbamazepine, and videoing the consequent reappearance and disappearance of the myoclonus.

[Published with video sequences]
Measurement of seizure freedom in adjunctive therapy studies in refractory partial epilepsy: the levetiracetam experience
Authors: Leppik Ilo , De Rue Katrien , Edrich Pascal , Perucca Emilio
Published: March 2024

Purpose

To assess the advantages and disadvantages of six methodologies used in calculating seizure freedom rates in placebo‐controlled, adjunctive therapy trials of new antiepileptic drugs (AEDs) in partial epilepsy, and two methodologies for long‐term follow‐up studies.

Methods

Data from levetiracetam trials were used to illustrate the impact of different methodologies on seizure freedom rates. Seizure‐freedom data for several new AEDs were identified from the published medical literature using MEDLINE and from a recent comprehensive textbook.

Results

Most randomized, placebo‐controlled add‐on clinical trials of new AEDs contain little or no information about seizure freedom. Importantly, the methodology used can profoundly affect results when calculating seizure‐free rates. Seizure freedom data should be reported as well as the methodology used. The minimum duration for assessing seizure freedom should be the entire stable dose period in short‐term trials and at least six months for long‐term follow‐up studies. It is proposed that the seizure freedom rates be calculated and reported with at least two different methodologies, one that considers patients withdrawing from treatment without having had a seizure as successes, and one that considers the same patients as failures. For an effective and well‐tolerated AED, seizure freedom rates will be consistent across the two methodologies.

Conclusions

Seizure freedom is the ultimate goal of AED therapy and should be reported for all clinical trials. Methodological differences among the few clinical studies reporting seizure freedom rates make it difficult to compare results across trials. Improved reporting of methodologies and seizure‐free rates is warranted.
Benign pediatric localization‐related epilepsies Part I. Syndromes in infancy
Authors: Chahine Lama M. , Mikati Mohamad A.
Published: March 2024

There is currently increasing interest in identifying and classifying pediatric benign epilepsy syndromes and recently several new syndromes have been recognized. Benign epilepsy syndromes, by definition, occur in children with normal developmental history, respond well to therapy, and remit without sequelae. The large majority of children with benign epilepsy syndromes follow a truly benign course. The concept of benign epilepsy syndromes has, however, been challenged by the minority of patients who continue to have seizures despite therapy, develop new seizures after initial remission, or exhibit neuropsychological abnormalities. Without long‐term follow‐up, benignity can not be truly ascertained
a priori
. Thus it may be preferable to use the terms
possible
and
probable
before the name of a specific syndrome until such time that the diagnosis of a definite benign syndrome is confirmed on long‐term follow‐up. In this review of the pediatric benign localization‐related epilepsy syndromes, we address the concept of benignity and the process of diagnosis of a benign epilepsy syndrome. In addition we review the epidemiology, clinical manifestations, EEG findings, work‐up, diagnostic criteria, differential diagnosis, genetics, management and prognosis of benign infantile familial convulsions, benign partial epilepsy in infancy with complex partial seizures, benign partial epilepsy in infancy with secondarily generalized seizures, benign infantile convulsions associated with mild gastroenteritis, and benign infantile focal epilepsy with midline spikes and waves during sleep.
Postictal behaviour in temporal lobe epilepsy
Authors: Caicoya Anne G. , Serratosa José M.
Published: March 2024

Postictal phenomena such as nose‐wiping, coughing and hyper‐salivation are believed to reflect a purposeful reaction to hypersecretion after regaining consciousness following a complex partial seizure, and are very common in patients with temporal lobe epilepsy, particularly in mesial temporal lobe epilepsy. Nose‐wiping is usually performed with the hand ipsilateral to the side of seizure onset. Our patient illustrates an unusual, exaggerated postictal behaviour consisting of long‐lasting nose‐wiping, coughing and guttural sounds following a complex partial seizure due to right mesial temporal lobe epilepsy.

[Published with video sequences]
Definition of the epileptogenic zone in a patient with non‐lesional temporal lobe epilepsy arising from the dominant hemisphere
Authors: Najm Imad M. , Naugle Richard , Busch Robyn M. , Bingaman William , Lüders Hans
Published: March 2024

Pharmacoresistant epilepsy arising from the dominant temporal region in patients with intact memory and normal anatomical imaging, presents major challenges in the preoperative definition of the epileptogenic zone, and the planning of the extent of the surgical resection. We report on the case of a 42‐year‐old, right‐handed male who presented with recurrent daily seizures that were resistant to antiepileptic drugs. Multiple, non‐invasive (scalp) video‐EEG evaluations revealed focal epilepsy arising from the left fronto‐temporal region. Multiple high resolution MRIs that were performed at multiple Epilepsy Centers failed to show any abnormality. Fluoro‐deoxyglucose PET scan showed extensive, left antero‐mesial temporal hypometabolism, and ictal SPECT showed increased perfusion in the left insula in addition to the left mesial and anterior temporal pole. Neuropsychological testing and intracarotid methohexital testing revealed excellent memory to the left, dominant side. A two‐stage invasive evaluation with subdural grid electrodes followed by depth electrode recordings allowed the localization of the epileptogenic region to the temporal pole. A selective resection of the left temporal pole (that spared the hippocampal formation) resulted in a seizure‐free outcome (one year follow‐up) with no significant consequences on memory function. We conclude that targeted, invasive recording techniques should be used for the accurate localization and delineation of the extent of the epileptogenic zone in cases of suspected, non‐lesional, dominant hemisphere, temporal lobe epilepsy with preserved memory function. The use of the staged invasive approach may increase the chances for memory (function) sparing through tailored, temporal resection.
Benign pediatric localization‐related epilepsies Part II. Syndromes in childhood
Authors: Chahine Lama M. , Mikati Mohamad A.
Published: March 2024

By definition, benign epilepsy syndromes occur in patients with no significant prenatal, perinatal, or postnatal complications, normal psychomotor development and negative laboratory and neuroimaging work‐up, respond well to therapy, and remit without sequeale. The benign localization‐related epilepsy syndromes of childhood include benign childhood epilepsy with centrotemporal spikes, Panayiotopoulos syndrome and Gastaut‐type idiopathic childhood epilepsy with occipital paroxysms. Some patients initially presumed to have these or, for that matter, other benign syndromes in other age groups, follow a less typical course and continue to experience seizures or to exhibit neuropsychological deficits. Thus the diagnosis of a “possible” or “probable” benign epilepsy syndrome may need to be applied to patients initially suspected of having such syndromes until follow‐up shows that they clearly follow a benign course. In Part I (Chahine and Mikati 2006) of our two‐part review article, we discussed benign localization‐related syndromes encountered in infancy. In this second part, we review the epidemiology, clinical manifestations, neuropsychological features, EEG findings, work‐up and diagnostic criteria, differential diagnosis, genetics, management and prognosis of the three childhood‐onset syndromes. In addition, we discuss their occasional overlap with or progression into other syndromes.
Focal occipital seizures with cerebral polyopia
Authors: Zakaria Asma , Lalani Irfan , Belorgey Laura , Foreman P. Jay
Published: March 2024

Polyopia is the visual perception of multiple images of a single visual stimulus. Cerebral polyopia has previously been described as an ictal phenomenon associated with temporal lobe seizures. We report the case of a man with multiple cavernous angiomas and occipital lobe seizures manifesting as cerebral polyopia.