bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transcallosal resection of hypothalamic hamartomas in patients with intractable epilepsy
Authors: Harvey A. Simon , Freeman Jeremy L. , Berkovic Samuel F. , Rosenfeld Jeffrey V. 
Published: March 2024

ABSTRACT
A variety of surgical treatments for intractable epilepsy with hypothalamic hamartoma (HH) are described, although most are derived from limited patient experience gathered from several centres. We describe the results of transcallosal resection of HH in 29 consecutive patients undergoing surgery at one centre.
Twenty‐nine patients aged 4‐23 years (mean 10 years) underwent HH surgery with a minimum of 12 months follow‐up. A comprehensive, presurgical epilepsy evaluation, supplemented with endocrine and ophthalmological assessments was performed in all cases. HH were resected via a transcallosal, interforniceal approach to the third ventricle, with the assistance of frameless stereotaxy, limiting the resection to the margins of the third ventricular walls and floor and minimising traction and diathermy.
Complete or near‐complete (> 95%) resection of the HH was achieved in 18/29 patients, 75‐95% resection was achieved in seven patients (four of whom had complete or near‐complete disconnection of residual HH) and less than 50% resection was achieved in four. Postoperatively (follow‐up 12‐70 months, mean 30 months), 15 became seizure‐free (nine off antiepileptic medication), seven had > 90% reduction in seizure frequency, three had 55‐80% reduction in seizure frequency, and four had less than 40% reduction in seizure frequency. Of 16 patients who had seizures in the early postoperative period, six became seizure. No patient or lesion characteristics were associated with postoperative seizure freedom, including features of symptomatic generalised epilepsy. Neurobehavioural improvement and resolution of EEG abnormalities were seen in the majority. Complications were transient hemiparesis in two, transient hypernatraemia in 17, short‐term memory impairment in 14 (persistent in four), weight gain in ten (persistent in five), need for supplemental thyroxine in five, and lowered growth hormone (uncertain clinical significance) in six.
Transcallosal resection of HH is an effective treatment for intractable epilepsy, with 76% patients in our seizures being seizure‐free or having > 90% seizure reduction. The operative risks include stroke, short‐term memory disturbance, weight gain and minor endocrine disturbances. Based on published data, the transcallosal approach appears to be safer and more effective than other operative strategies.
Hypothalamic hamartoma with refractory epilepsy: surgical procedures and results in 18 patients
Authors: Fohlen Martine , Lellouch Arielle , Delalande Olivier 
Published: March 2024

ABSTRACT

Aim
to study the surgical procedures and results on seizures, in 18 patients with refractory epilepsy due to hypothalamic hamartoma.

Patients and methods
Eighteen patients aged from 9 months to 32 years underwent surgery between 1997 and 2002. The mean age at seizure onset was 15.5 months. Seventeen patients had gelastic seizures, 14 had partial seizures, two had infantile spasms, 10 had tonic or atonic seizures and three had generalized seizures. The mean seizure frequency was 21 per day. Four patients had borderline intellectual disability and the others were mentally retarded. Five patients had precocious puberty, one had acromegaly and four suffered from obesity. Brain MRI, performed at least twice in each patient showed the hamartoma as a stable, homogeneous interpeduncular mass implanted either on the mammilary tubercle or on the wall of the third ventricle, with variable extension to the bottom. Ictal SPECT, performed in four patients, showed hyperperfusion within the hamartoma in two.

Surgical procedure
twenty‐six operations were performed in 18 patients. The first patient underwent a total removal of the hamartoma, whereas the following patients underwent a disconnection, either through open surgery (14 patients) or endoscopy (10 patients).

Results
regarding the seizure outcome with a mean follow up of three years four months (one year to 4.5 years), nine patients are seizure‐free, one patient has only brief gelastic seizures and eight are dramatically improved. Surgery was uncomplicated in all but two patients: one had transitory hemiplegia and paresis of the third cranial nerve, the other presented with hemiplegia due to ischemia of the middle cerebral artery territory. The quality of life, behavior and school performance were greatly improved in most of the patients.

Conclusion
our series illustrates the feasibility and relative safety of disconnecting surgery of hypothalamic hamartomas, with seizure relief in 50% and a dramatic improvement in the others. Endoscopic disconnection seems to be a very safe way to treat the intra‐ventricular part of hamartomas.
Stereotactic surgical approach to hypothalamic hamartomas
Authors: Kuzniecky Ruben I. , Guthrie Barton L. 
Published: March 2024

ABSTRACT
Hypothalamic hamartomas are often associated to a progressive epileptic encephalopathy. Non‐invasive data indicates that destruction or isolation of the hamartoma may stop seizures. We present data on patients who underwent stereotactic radiofrequency with or without endoscopy. Epilepsy improved in 60% of patients with minimal morbidity. This approach was less succesful in large lesions. These results indicate that this approach should be considered in patients with small/medium lesions.
Antiepileptogenesis, neuroprotection, and disease modification in the treatment of epilepsy: focus on levetiracetam
Authors: Klitgaard Henrik , Pitkänen Asla 
Published: March 2024

ABSTRACT
The search for antiepileptic drugs (AEDs) using drug screens that test for the ability to suppress paroxysmal events has primarily resulted in the discovery of AEDs that inhibit neuronal excitability. While profoundly reducing expression of epileptic seizures, current pharmacologic treatments have not been able to completely control seizures in all patients, and can impair normal neuronal excitation underlying cognition. A new approach to drug screening, including the process of epileptogenesis, may yield new classes of drugs that not only suppress seizures but also specifically act to protect against the neurobiological changes that contribute to the development of epilepsy. By preventing or reversing the neuronal circuit reorganizations that produce lowered seizure thresholds following brain insults such as head trauma or status epilepticus, these antiepileptogenic drugs could prevent, or reverse, progressive worsening of the epileptic process. It is likely that antiepileptogenic drugs will have mechanisms of action distinct from traditional AEDs, as the molecular mechanisms underlying epileptogenesis and ictogenesis probably differ. One new AED with potential antiepileptogenic properties is levetiracetam, which was discovered using non‐conventional drug screens. It markedly suppresses kindling development at doses devoid of adverse effects, with persistent suppression of kindled seizures even after termination of treatment. Further design and implementation of antiepileptogenic drug screens are needed for the discovery of other novel disease‐modifying agents.
Continuous giggling and autistic disorder associated with hypothalamic hamartoma
Authors: Pérez‐Jiménez Angeles , Villarejo Fransisco J , del Castillo María Concepción Fournier , García‐Peñas Juan José , Carreño Mar 
Published: March 2024

ABSTRACTWe present the case of a child affected since early infancy from recurring episodes of giggling mixed with stereotypical behaviours, mingled with head drops, and eventually with falls, in the context of an autistic disorder. Scalp video‐EEG recordings revealed an epileptic encephalopathy with generalized slow spike‐and‐wave complexes alternating with electrodecremental periods, which generally corresponded to the onset of the aforementioned clinical sequences. A resection of a hypothalamic hamartoma was achieved at the age of two. Since then, after 22 months of follow‐up, the child is totally free from the giggling and the drops, and the autistic behaviour significantly improved during the second year of follow‐up. This case illustrates the difficulties to recognize some subtle ictal manifestations during infancy and childhood, and encourages the early surgical treatment of hypothalamic hamartomas when associated with epileptic encephalopathy and when technically possible. [Published with videosequences.]
Epilepsy and malformations of the cerebral cortex
Authors: Guerrini Renzo , Sicca Federico , Parmeggiani Lucio 
Published: March 2024

ABSTRACT

Malformations of the cerebral cortex (MCC) are often associated with severe epilepsy and developmental delay. About 40% of drug‐resistant epilepsies are caused by MCC. Classification of MCC is based on embryological brain development, recognising forms that result from faulty neuronal proliferation, neuronal migration and cortical organisation. Hemimegalencephaly, an enlarged dysplastic hemisphere, can present as early onset severe epileptic encephalopathy or as partial epilepsy. In focal cortical dysplasia (FCD), MRI shows focal cortical thickening and simplified gyration. Patients have drug‐resistant, often early onset epilepsy. Complete surgical ablation of FCD is accompanied by remission in up to 90% of patients, but may be technically difficult. Tuberous sclerosis (TS) is a multisystemic disorder primarily involving the nervous system; 60% of patients having epilepsy, with 50% having infantile spasms. TS is caused by mutations in the
TSC1
and
TSC2
genes; 75% of cases are sporadic.
TSC1
mutations cause a milder disease. Bilateral periventricular nodular heterotopia (BPNH) consists of confluent and symmetric nodules of grey matter along the lateral ventricles. X‐linked BPNH presents with epilepsy in females and prenatal lethality in most males. Most patients have partial epilepsy.
Filamin A
mutations have been reported in families and sporadic patients. Lissencephaly (LIS – smooth brain) is a severe MCC characterised by absent or decreased convolutions. Classical LIS is quite rare and manifests with severe developmental delay, spastic quadriparesis and severe epilepsy.
XLIS
mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia in heterozygous females. Thickness of heterotopic band and degree of pachygyria correlate well with phenotype severity. Schizencephaly (cleft brain) has a wide anatomo‐clinical spectrum, including partial epilepsy in most patients. Polymicrogyria (excessive number of small and prominent convolutions) has a wide spectrum of clinical manifestations ranging from early onset epileptic encephalopathy to selective impairment of cognitive functions. Bilateral perisylvian polymicrogyria may be familial. Patients present with faciopharingo‐glosso‐masticatory diplegia and epilepsy, which is severe in about 65% of patients.
Split‐screen synchronized display. A useful video‐EEG technique for studying paroxysmal phenomena
Authors: Tinuper Paolo , Grassi Carlo , Bisulli Francesca , Provini Federica , Plazzi Giuseppe , Zoni Elena , Lugaresi Elio 
Published: March 2024

ABSTRACT
Video‐EEG is an indispensable and widely used technique for studying paroxysmal phenomena. We present a method of processing video recordings to compare the sequence of ictal manifestations of different episodes. Five presentations of two seizures recorded in each of five patients are shown, in which apparently different ictal features are strongly superimposed and stereotyped. Split‐screen synchronized display is a simple and valid technique for studying and presenting particular semeiological aspects of epileptic seizures. (Published with videosequences)
Sandifer syndrome misdiagnosed as refractory partial seizures in an adult
Authors: Somjit Sriudomkajorn , Lee Yong , Berkovic Samuel F , Harvey A. Simon 
Published: March 2024

ABSTRACT
We report a 27 year‐old man with intellectual disability and no prior history of seizures who presented with episodes of abdominal pain, head/eye version and unresponsiveness that were misdiagnosed and treated as partial seizures. Associated vomiting and haematemesis led to the correct diagnosis and treatment of reflux oesophagitis. The episodes immediately resolved and a diagnosis of Sandifer syndrome was made. This is only the second report of Sandifer syndrome in adult, a movement disorder of unknown mechanism that occurs almost exclusively in young children, often misdiagnosed as epilepsy or episodic dystonia. (Published with videosequences)
A critical review of the different conceptual hypotheses framing human focal epilepsy
Authors: Nair Dileep R. , Mohamed Armin , Burgess Richard , Lüders Hans 
Published: March 2024

ABSTRACT
In the attempt to understand the processes affecting human focal epilepsy, various models that have been proposed as a back drop to which current observations of the clinical manifestations and therapies in this disorder can be tested. There are three main models that are reviewed. The notion of epileptogenicity as described by Penfield and Jasper's epileptogenic zone model postulates that specific regions of cerebral cortex have varying degrees of importance in the generation of focal epilepsy. A variation of this hypothesis comprises the second model put forth by Talairach and Bancaud. In this view the notion of the epileptogenic zone is expanded to incorporate a larger regions of cerebral cortex involved in the seizure propagation. A third concept and more separate hypothesis suggests that all components of the neural network involved in focal epilepsy are equally importance in the initiation and maintenance of the seizure. The various concepts underlying these models are reviewed in this paper and data from clinical and neurophysiologic observations are discussed in the context of these models. We suggest in this paper that the data best supports the epileptogenic zone hypothesis put forth by Penfield and Jasper.
Temporal lobe dysembryoplastic neuroepithelial tumour: significance of discordant interictal spikes
Authors: Labate Angelo , Briellmann Regula S. , Harvey Anthony S. , Berkovic Samuel F. , Federico Paolo , Kalnins Renate M. , Fabinyi Gavin C. , Jackson Graeme D. 
Published: March 2024

ABSTRACT

Purpose:
Dysembryoplastic neuroepithelial tumours (DNET) are an important cause of refractory partial epilepsies. They usually occur within dysplastic cortex and tend to affect the temporal lobes. The EEG of these patients is characterised by slowing and/or epileptiform abnormalities with a multifocal distribution. We studied the EEG features of epilepsy patients with a temporal lobe DNET to assess the relationship of EEG abnormalities with the localisation of the tumour and the clinical features.

Methods
We retrospectively reviewed 16 patients with unilateral, temporal lobe DNET on MRI. The EEG abnormalities were classified as concordant to the lesion when the EEG discharges were confined to the ipsilateral temporal lobe or discordant when EEG discharges were found in other areas. Clinical and epilepsy characteristics were compared between patients with concordant and discordant EEG.

Results
Focal EEG abnormalities were found in 81% of the patients; 6/16 patients had concordant EEG abnormalities, and 7/16 patients had discordant EEG abnormalities. Epilepsy severity prior to the operation, antecedents and post‐operative outcome were not different between patients with concordant or discordant EEG abnormalities.

Conclusion
Patients with temporal lobe DNET often show EEG discharges discordant to the tumour. However, they do not appear to predict the clinical and epilepsy characteristics of these patients.
Épilepsie et sclérose en plaques
Authors: Lebrun Christine 
Published: March 2024

RÉSUMÉ
L'épilepsie est trois à six fois plus fréquente chez les patients atteints de sclérose en plaques que dans la population générale. Le substratum anatomique des crises repose sur la présence de lésions de démyélinisation corticales et juxta‐corticales. Les crises partielles avec ou sans généralisation secondaire sont les plus fréquentes. Elles peuvent être prévalentes, survenir pendant les poussées, ou beaucoup plus tard dans une évolution progressive secondaire. Il n'existe actuellement pas de consensus pour la prise en charge de ces épilepsies, et les recommandations publiées ne présentent aucune particularité comparées aux autres épilepsies symptomatiques. Les phénomènes paroxystiques non‐épileptiques représentent le principal diagnostic différentiel ; ils répondent généralement bien aux molécules anti‐épileptiques à plus faibles doses.
Gelastic seizures due to right temporal cortical dysplasia
Authors: Dericioglu Nese , Cataltepe Oguz , Tezel Gaye Guler , Saygi Serap 
Published: March 2024

ABSTRACT

Gelastic seizures are an uncommon seizure type. They are most frequently observed in patients with hypothalamic hamartoma. Their association with other types of cerebral lesions is rare. Depending on the location of the lesion, gelastic seizures may or may not be accompanied by a subjective feeling of mirth. The pathophysiological mechanisms of this type of seizure are still undefined, and little is known about which pathways promote laughter and its emotional content, mirth. We present a young man with drug‐resistant, gelastic seizures due to focal cortical dysplasia of the right inferior temporal gyrus. The lesion was evident on cranial MRI. Interictal EEG displayed a right temporal focus, whereas ictal EEG was not informative. Ictal loss of consciousness precluded reporting of any possible emotional experience. The patient underwent surgical resection of the lesion and has been seizure‐free with antiepileptic medication for two years. Although various anatomical regions may elicit laughter, in view of the current literature it seems that the anterior cingulate region is involved in the motor aspects of laughter, while the basal temporal cortex is involved in the processing of mirth. The fact that the present case exhibited gelastic seizures stresses once more the importance of the baso‐lateral temporal cortex in the genesis of this type of seizures.
[Published with video sequences]
The impact of epilepsy surgery on mortality
Authors: Ryvlin Philippe , Montavont Alexandra , Kahane Philippe 
Published: March 2024

ABSTRACT
Patients with refractory epilepsy suffer from an increased risk of death, primarily due to seizure‐related fatalities including sudden unexpected death (SUDEP), which could be conceivably avoided by surgical cure of the epilepsy. Several series have addressed this issue by comparing the mortality rate between medically and surgically treated drug resistant populations, as well as between patients, seizure free and non seizure free post‐operatively. Results from some studies suggest that successful temporal lobe surgery reduced the risk of death to that observed in the normal population, whereas patients who continue to suffer recurrent seizures still present an increased standardized mortality ratio (SMR). However, other series have failed to replicate this finding, or found no difference in the overall mortality and SUDEP rates between operated and medically treated patients. All the above studies suffer various types of methodological limitations, hampering any definite conclusion regarding the impact of epilepsy surgery on mortality. However, part of the apparently discordant reported findings might be reconciled through the following framework. Patients who will eventually respond favourably or unfavourably to an anterior temporal lobectomy might already differ in the risk of seizure‐related death, pre‐operatively. Specifically, patients whose temporal lobe epileptogenic network extends to the perisylvian region (temporal plus epilepsy) appear to be at higher risk of failed TLE surgery, secondary generalised tonic‐clonic seizures, ictal apnoea or insula‐driven severe cardiac arrhytmias. This population might carry most of the SUDEP burden, both pre‐ and post‐operatively, accounting for the lack of an obvious net reduction of seizure related deaths after temporal lobe surgery. A multicentric study has recently been launched in order to test this hypothesis, and will hopefully help to conclude on the impact of epilepsy surgery on mortality outcome.
Descriptions of clinical semiology of seizures in literature
Authors: Wolf Peter 
Published: March 2024

ABSTRACT
Literary texts are an important part of the cultural history of many fields of medicine. Accounts of epilepsy are frequent, and descriptions of seizure semiology are often included with varying detail. This review looks at these, and considers the authors' background knowledge of epilepsy. The first group of writers suffered seizures themselves. Some of them provide remarkable and novel insights into the subjective symptoms and experiences in and around seizures.
A second group draws from their own observations of seizures in others who may have been close relatives or fortuitous strangers. Here, the outside view prevails, and seizures may be described with clinical objectiveness. Commonly, the reactions of onlookers become part of the narrative beyond the seizure description.
The third group writes from second‐hand knowledge, which may be other observer reports, interviews with people with epilepsy or with experts, information being available in dictionaries, medical textbooks and the like. The professional standard of most writers means that the resulting descriptions are quite accurate, but there are also examples of poor use of such information. Many authors' sources are not known, but can be assumed to belong to one of the above categories, and we can sometimes guess. It appears that even authors with no first‐hand knowledge are often aware of seizure types other than the most widely known, generalised tonic‐clonic, and there is a widespread interest in warnings and how the afflicted respond to them.
The quality of an author's fictional account of epilepsy should not be judged from a translation, because specific aspects and the language involved in the description may have been misunderstood by the translator.
Isolated paroxysmal arousals as focal epilepsy
Authors: Valenti Maria Paola , Froelich Sébastien , Rudolf Gabrielle , Thibault Anne , Chassagnon Serge , Arzimanoglou Alexis , Hirsch Edouard 
Published: March 2024

ABSTRACT

Paroxysmal motor phenomena and arousals during sleep are frequent. The differential diagnoses between benign hypnic transient events, epileptic and non‐epileptic seizures represent a common clinical problem. Video‐EEG monitoring during sleep, recording several episodes in the same patient, is essential in order to characterize these phenomena. It offers the possibility to compare electro‐clinical data, to demonstrate the eventual stereotyped pattern of motor phenomena and their progression in time, and to study EEG‐polygraphic correlates. The recently described double split‐screen synchronized display (DSSSD) technique represents a useful tool for comparing particular clinical patterns of epileptic seizures when dealing with complex, hypermotor phenomena observed in frontal lobe epilepsy. We reviewed the data of 24 patients admitted during a two‐year period (2002‐2003) to our epilepsy sleep unit for isolated paroxysmal sleep motor events. Four patients presented with very brief paroxysmal arousals without daytime fits. Three of our patients presented isolated paroxysmal arousals, whereas in one, the events were associated with hypermotor seizures. We present a simplified variant of the DSSSD method (modified DSSSD) that can be used to study episodes of paroxysmal arousals in order to confirm their stereotyped motor pattern. The clinical aspects and the EEG‐polygraphy patterns were informative, with the absence of asymmetrical tonic or dystonic posturing of the limbs. Scalp EEG alone does not usually provide much information in patients with isolated paroxysmal arousals. Coupled to the modified DSSSD technique, it may allow confirmation of the diagnosis of frontal epilepsy, as was the case in our four patients.
[Published with video sequences]