bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hypothalamic hamartoma and epilepsy in children: illustrative cases of possible evolutions
Authors: Arzimanoglou Alexis A. , Hirsch Edouard , Aicardi Jean 
Published: March 2024

ABSTRACTThe 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

ABSTRACTPatients 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.
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

ABSTRACT

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

ABSTRACT

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

ABSTRACT
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

ABSTRACT
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

ABSTRACT
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

ABSTRACT
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

RÉSUMÉ
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

RÉSUMÉ
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

RÉSUMÉ

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.
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

ABSTRACTA 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

ABSTRACT

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

ABSTRACT

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

ABSTRACT

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]