bluuebunny/crossref_metadata_2025_split huggingface dataset:
Giant hypothalamic hamartoma and dacrystic seizures
Authors: López‐Laso Eduardo , González M. Elena Mateos , León Rafael Camino , González M. Dolores Jiménez , Rodríguez Javier Esparza 
Published: March 2024

ABSTRACT
Ictal crying is a rare type of epileptic seizure associated with hypothalamic hamartoma and with other lesions such as tumours, vascular malformations, hippocampal sclerosis, or cerebral infarction. We describe the case of an infant with gelastic, dacrystic and other types of seizures associated with a giant hypothalamic hamartoma, and present a video sequence of dacrystic seizures. Dacrystic episodes presented in clusters at sleep onset, initially in the form of moaning followed by face‐flushing that rapidly evolved to crying, associated with a lateral and upper deviation of both eyeballs, along with clonic aspects of the eyelids. After a few seconds, the crying became less intense, she stared, and oro‐alimentary automatisms became prominent along with some slow horizontal movements of the eyes and the head. Following surgery, at the age of nine months, the gelastic seizures stopped, but dacrystic seizures persisted.

[
Published with video sequences
]
Treatment adherence and outcomes in the management of convulsive status epilepticus in the emergency room
Authors: Muayqil Taim , Rowe Brian H. , Ahmed S. Nizam 
Published: March 2024

ABSTRACT

Purpose
According to published literature status epilepticus (SE) is associated with 7‐39% mortality. Timely management is one variable that potentially influences the outcome. We sought to review the process of acute management of SE at the University of Alberta Hospital and correlate outcome with adherence to a recommended treatment protocol.

Methods
We identified 86 patients 18 years of age or older who presented with convulsive SE to our emergency room between 2000 and 2004. We defined SE as continuous convulsive activity for 30 or more minutes or ≥ 2 convulsions with incomplete recovery in the interim. Information was collected pertaining to etiology, epidemiology, and management. We then reviewed the relationship of the treatment protocol in terms of mortality and morbidity.

Results
Forty five patients were included. There were 18 males and 27 females with a mean age of 45 years; 80% were known to have epilepsy. Subtherapeutic drug levels were found in the majority 60%; benzodiazepines (diazepam 81% and lorazepam 19%) were the first line agent in 93.3% mostly initiated by paramedics (EMS); 48.9% of patients required intubation and 26.7% required admission to intensive care. Four patients died. Control of convulsive SE was obtained sooner for patients in whom therapy was administered according to the recommended time frame (p ≤ 0.02).

Conclusion
The presence of strict treatment protocols for SE made readily available for the treating staff could potentially improve the outcome of patients. Despite the lack of standardized treatment protocols among various physicians, most patients are treated according to generally recommended sequence and time frames. Analysis of this data will help devise prospective treatment protocols.
Multimodality imaging for focus localization in pediatric pharmacoresistant epilepsy
Authors: Kurian M. , Spinelli L. , Delavelle J. , Willi J.P. , Velazquez M. , Chaves V. , Habre W. , Meagher‐Villemure K. , Roulet E. , Villemure J.G. , Seeck M. 
Published: March 2024

ABSTRACTMultiple structural and functional imaging modalities are available to localize the epileptogenic focus. In pre‐surgical evaluation of children with pharmacoresistant epilepsy, investigations with the maximum yield should be considered in order to reduce the complexity of the workup.ObjectiveTo determine the extent to which PET, ictal/interictal SPECT and its co‐registration with the patient's MRI contributes to correct localization of the epileptogenic focus, surgical intervention and to the post surgical outcome in paediatric patients.MethodsThe study population included children and adolescents with pharmacoresistant epilepsy (n = 50) who underwent preoperative evaluation, surgery and had postoperative follow‐up for at least 12 months. Outcome was measured by postoperative seizure frequency using Engel's classification.ResultsThirty‐nine patients (78%) became completely seizure free after surgical intervention. The likelihood to benefit from surgical treatment was significantly higher if localization with more imaging modalities (MRI, PET, SPECT) were concordant with respect to the resected brain area (p < 0.01). Preoperative PET examination provided better localizing information in patients with extratemporal epilepsy and/or dysplastic lesions, whereas SPECT was found to be superior to PET in patients with temporal lobe epilepsy and/or tumors (p < 0.05). No significant difference was noted in the surgical outcome in younger or older age group, in children with or without special education needs.ConclusionIn paediatric epilepsy pre‐surgical evaluation, the combined use of multiple functional imaging modalities for a precise localisation of the epileptogenic focus is worthwhile for both extratemporal and temporal lobe epilepsy, also when EEG and MRI alone are non‐contributive, given the potential benefit of complete postoperative seizure control.
“Tonic‐absence seizures”: an unusual seizure phenotype, but not necessarily in that order
Authors: Das Krishna B. , Boyd Stewart G. 
Published: March 2024

ABSTRACT
Video telemetry in a 15‐year‐old boy with moderate learning difficulties revealed episodes of staring and cessation of activity, followed by sudden stiffening of the body for several seconds, abduction of the arms and a brief vocal utterance (“ugh”). Each episode lasts around 30 seconds, 3‐4 times/day despite treatment. The EEG showed generalized 3‐4Hz spike‐wave discharges during the “absence” period followed immediately by a run of fast polyspikes typical of a tonic seizure, terminating in a run of 1‐2 Hz sharp‐slow wave complexes. Although tonic‐absence seizures have been reported rarely, the clinical sequence appears to be reversed in this patient, with the occurrence of “absence‐tonic” attacks. We present video documentation of such attacks and discuss their nosology.

[Published with video sequences]
Status gelasticus associated with levetiracetam as add‐on treatment
Authors: Pustorino Giuseppina , Spano Maria , Sgro Domenica Lucia , Di Rosa Gabriella , Tricomi Giovanni , Bellantone Dorotea , Tortorella Gaetano 
Published: March 2024

ABSTRACT
We report the case of a five‐year‐old girl, presenting with difficult‐to‐treat, symptomatic focal epilepsy, who developed status gelasticus following the introduction of levetiracetam as add‐on treatment to oxcarbazepine and diazepam. Gelastic seizures were documented by video‐EEG and were responsive to i.v. administration of diazepam. A possible causative role of levetiracetam is suggested. Specific susceptibility to some AEDs is also discussed, as this patient, at the age of four years, had presented an episode of non‐convulsive status epilepticus, following introduction of tiagabine, in association with vigabatrin and nitrazepam.

[Published with video sequences]
Temporal lobe dual pathology in malignant migrating partial seizures in infancy
Authors: Coppola Giangennaro , Operto Francesca Felicia , Auricchio Gianfranca , D'Amico Alessandra , Fortunato Delia , Pascotto Antonio 
Published: March 2024

ABSTRACT
A child had the characteristic clinical and EEG pattern of migrating partial seizures in infancy with left temporal lobe atrophy, hippocampal sclerosis and cortical‐subcortical blurring. Seizures were drug‐resistant, with recurring episodes of status epilepticus. The child developed microcephaly with arrest of psychomotor development. Focal brain lesions, in the context of migrating partial seizures, have not been previously reported.

[Published with video sequences]
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome
Authors: Ricard‐Mousnier Brigitte , N'Guyen Sylvie , Dubas Frédéric , Pouplard François , Guichet Agnès 
Published: March 2024

ABSTRACTA four‐year‐old boy with ring chromosome 17 presenting with early‐onset, pharmacoresistant epilepsy underwent repeated 24‐hour video‐EEG monitoring and cytogenetic analyses, including fluorescentin situhybridization with telomeric and locus‐specific probes of chromosome 17. Epilepsy was characterized by nocturnal motor seizures and by prolonged diurnal electrical status epilepticus. The 46, XY, r (17) karyotype was observed in the majority of cell lines. Fluorescentin situhybridization revealed a deletion at the 17p telomere on the ring chromosome, whereas the 17q telomere and the Miller‐Dieker lissencephaly locus were undeleted. The epileptic syndrome observed in this case of ring chromosome 17 resembles the one described in the ring chromosome 20 syndrome, raising the question of the specificity and the pathogenesis of ring chromosome epileptic syndromes.[Published with videosequences]
Familial generalized epilepsy in Bulgarian Roma
Authors: Tournev Ivailo , Royer Barbara , Szepetowski Pierre , Guergueltcheva Velina , Radionova Melania , Velizarova Reana , Yonova Mila , Lathrop Mark , Jamali Sarah , Petkov Radoslav , Raycheva Margarita , Genton Pierre 
Published: March 2024

ABSTRACT

Aims
Gypsy communities constitute cultural and frequently inbred genetic isolates. Several genetic neurological disorders have been identified in these communities. Epilepsy appears as a fairly frequent medical condition among Bulgarian Gypsies, and many patients can be related to large pedigrees that may then be studied by conventional genetic linkage analyses.

Patients and methods
We identified two large Wallachian Gypsy families from the Plovdiv and Varna regions of Bulgaria, with detailed clinical questionnaires and examination, and EEG recordings for many. Genetic linkage analysis was performed using microsatellite markers spaced across the human genome.

Results
Although phenotypes were not always easy to identify, epilepsy appears in both families as a dominant, or pseudo‐dominant trait, with the characteristics of idiopathic generalized epilepsy with onset at various ages, with infrequent, generalized tonic‐clonic seizures, some associated with fever in childhood, but without sensitivity to fever in later life. While few markers yielded LOD scores > 2, no locus showed significant linkage, assuming autosomal dominant or recessive modes of inheritance.

Conclusion
Idiopathic generalized epilepsy, with a marked familial character, has not been reported to date in Bulgarian Gypsies. Both pedigrees studied here present with an identifiable epilepsy type inherited as a Mendelian trait. Despite the current lack of significant linkage, these families may constitute interesting ground for further genetic studies, on condition that more patients and families can be recruited.

[
Published with supplemental data on DVD
].
Self‐induced stretch syncope of adolescence: a video‐EEG documentation
Authors: Mazzuca Michel , Thomas Pierre 
Published: March 2024

ABSTRACT

We present the first video‐EEG documentation, with ECG and EMG features, of stretch syncope of adolescence in a young, healthy 16‐year‐old boy. Stretch syncope of adolescence is a rarely reported, benign cause of fainting in young patients, which can be confused with epileptic seizures. In our patient, syncopes were self‐induced to avoid school. Dynamic transcranial Doppler showed evidence of blood flow decrease in both posterior cerebral arteries mimicking effects of a Valsalva manoeuvre. Dynamic angiogram of the vertebral arteries was normal. Hypotheses concerning the physiopathology are discussed.
[Published with video sequences]
.
Are dyslexia and dyscalculia associated with Rolandic epilepsy? A short report on ten Italian patients
Authors: Canavese Carlotta , Rigardetto Roberto , Viano Vilma , Vittorini Roberta , Bassi Bianca , Pieri Ilaria , Capizzi Giorgio 
Published: March 2024

ABSTRACT
Rolandic epilepsy (RE) is the most common childhood epilepsy syndrome with a good, long‐term outcome. Nevertheless, some studies indicate that children with RE have more scholastic and neuropsychological problems than controls. The purpose of this study was to describe neuropsychological findings in a small group of Italian children with RE, focusing on dyslexia and dyscalculia. Possible correlations between these findings and the age‐at‐onset of seizures, duration of active epilepsy, frequency, type and localization of epileptic discharges were examined. Children affected by RE, aged nine to eleven years were selected from patients admitted to the outpatient service of our Clinic. They underwent cognitive evaluation, specific evaluation for dyslexia and dyscalculia, and awake and sleep EEG recordings. We found two patients out of the ten with dyscalculia, one of whom also had characteristics of dyslexia. This small study suggests that dyscalculia and dyslexia might be more frequent than expected in children with RE. No significant correlations between this finding and EEG, seizure‐frequency or age‐at‐onset of epilepsy were found in our patients.
Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy
Authors: Klein Karl Martin , Preisig‐Mμller Regina , Knake Susanne , Hamer Hajo M. , Oertel Wolfgang H. , Neubauer Bernd A. , Daut Jμrgen , Rosenow Felix 
Published: March 2024

ABSTRACT

Purpose
Evaluation of the loci 2q36, 3q26, 5q34 and 14q23 in a German family with autosomal dominant idiopathic generalized epilepsy (IGE).

Methods
A linkage analysis was performed including 10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.

Results

Suggestive linkage for IGE was found on 2q36‐37 at D2S2308 and D2S2193. No mutations were identified in the coding or 5'‐non‐coding regions of the exons of candidate gene
KCNJ13.

Conclusions
Our results corroborate former linkage findings on 2q36‐2q37 and warrant further investigation of additional candidate genes within this chromosomal area in IGE.
Benign neonatal sleep myoclonus
Authors: Marx Catherine , Masruha Marcelo Rodrigues , Garzon Eliana , Vilanova Luiz Celso Pereira 
Published: March 2024

ABSTRACT
Benign neonatal sleep myoclonus is a non‐epileptic disorder. This phenomenon of the first weeks of life is characterized by erratic myoclonic jerks occurring only during sleep and with no electroencephalographic changes. It is not associated with perinatal complications, disappears spontaneously within two to four months, and it does not compromise future development. We illustrate with a video this relatively frequent condition, which is often misdiagnosed as epileptic in nature, and discuss the clinical characteristics and differential diagnosis.

[Published with video sequences]
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Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome
Authors: Jacobs Julia , Bernard Geneviève , Andermann Eva , Dubeau François , Andermann Frederick 
Published: March 2024

ABSTRACT

Purpose
The only consistent symptom of ring chromosome 20 syndrome (r(20)) is severe, refractory epilepsy often associated with a characteristic, although not pathognomonic, EEG pattern. Patients suffer from severe seizures with accompanying cognitive decline and frequent episodes of nonconvulsive status epilepticus (SE). Other features of this rare disorder, such as dysmorphic changes, mental retardation and behavioral disturbances are variable. Because of the variability of the clinical presentation, some patients with r(20) undergo invasive investigations before being diagnosed.

Case study
We present the case of a young boy with no dysmorphic traits, who was only diagnosed with r (20) syndrome at the age of 13. His first seizure occurred at the age of four. Later seizures were of various types including non‐convulsive SE, with deterioration of the background EEG and severe cognitive decline. Despite multiple trials of anti‐epileptic medications, his seizures remained highly refractory, and he died as the result of an uncontrollable, prolonged SE, shortly after the diagnosis was made.

Discussion

Non‐convulsive SE is common in patients with r(20) syndrome and may be caused by a dysfunction in dopaminergic neurotransmission. However, until now, no case of lethal status epilepticus has been reported. This case report suggests that patients with unexplained refractory seizures and episodes of non‐convulsive SE should undergo genetic testing early in their disease, even in the absence of any morphologic features or dysmorphic traits suggestive of a chromosomal disease.
[Published with video sequences]
Pathways of seizure propagation from the temporal to the occipital lobe
Authors: Jacobs Julia , Dubeau François , Olivier André , Andermann Frederick 
Published: March 2024

ABSTRACT
Propagation of ictal epileptic discharges influences the clinical appearance of seizures. Fast propagation from the occipital to temporal lobe has been well described, but until now the reverse direction of spread has not been emphasized. We describe two patients who experienced ictal propagation from temporal to occipital regions. One case presented with amaurosis during a seizure with temporal onset and temporal‐occipital spread. In the second, temporal‐occipital spread was documented during a seizure, which continued in the occipital lobe for six minutes. Depth electrode studies suggested the temporal ictal onset of seizures in both patients. Propagation from temporal to occipital lobe structures must be considered in the assessment of patients who have seizures with both temporal and occipital features. The propagation may have predictive value for their surgical outcome. The underlying anatomical structure might be the inferior longitudinal fasciculus.
Anatomo‐electro‐clinical correlations: the Marseille, France Case Report Case 02‐2008: MRI‐negative prefrontal epilepsy due to cortical dysplasia explored by stereoelectroencephalography (SEEG)
Authors: McGonigal Aileen , Gavaret Martine , Da Fonseca Agnès Trébuchon , Guye Maxime , Scavarda Didier , Villeneuve Nathalie , Régis Jean , Bartolomei Fabrice , Chauvel Patrick 
Published: March 2024

ABSTRACT

[Case records of
Epileptic Disorders.
Anatomo‐electro‐clinical correlations. Case 02‐2008]

We report the case of a young boy presenting with pre‐frontal seizures including singing automatisms. There was no visible lesion on MRI, but following localisation using stereoelectroencephalography (SEEG), surgery revealed an underlying dysplastic lesion.
[Published with video sequences]
Source of cannabinoids: what is available, what is used, and where does it come from?
Authors: Specchio Nicola , Pietrafusa Nicola , Cross Helen J. 
Published: March 2024

ABSTRACT

Cannabis sativa L
. is an ancient medicinal plant wherefrom over 120 cannabinoids are extracted. In the past two decades, there has been increasing interest in the therapeutic potential of cannabis‐based treatments for neurological disorders such as epilepsy, and there is now evidence for the medical use of cannabis and its effectiveness for a wide range of diseases. Cannabinoid treatments for pain and spasticity in patients with multiple sclerosis (Nabiximols) have been approved in several countries. Cannabidiol (CBD), in contrast to tetra‐hydro‐cannabidiol (THC), is not a controlled substance in the European Union, and over the years there has been increasing use of CBD‐enriched extracts and pure CBD for seizure disorders, particularly in children. No analytical controls are mandatory for CBD‐based products and a pronounced variability in CBD concentrations in commercialized CBD oil preparations has been identified. Randomized controlled trials of plant‐derived CBD for treatment of Lennox‐Gastaut syndrome (LGS) and Dravet syndrome (DS) have provided evidence of anti‐seizure effects, and in June 2018, CBD was approved by the Food and Drug Administration as an add‐on antiepileptic drug for patients two years of age and older with LGS or DS. Medical cannabis, with various ratios of CBD and THC and in different galenic preparations, is licensed in many European countries for several indications, and in July 2019, the European Medicines Agency also granted marketing authorisation for CBD in association with clobazam, for the treatment of seizures associated with LGS or DS. The purpose of this article is to review the availability of cannabis‐based products and cannabinoid‐based medicines, together with current regulations regarding indications in Europe (as of July 2019). The lack of approval by the central agencies, as well as social and political influences, have led to significant variation in usage between countries.
Cardioembolic acute cerebral micro‐infarcts in the context of atrial fibrillation after low‐dose intravenous infusion of lacosamide
Authors: Corbellini Álvaro Beltrán , Torre Paula Pérez , Hristova Velina Nedkova , Sanz Beatriz Zarza , García Adriana Celdrán de Castro , Jorge Fernando Rodriguez , García Juan Luís Chico , Díaz Paloma Parra , Catevilla Francisco Javier Buisan 
Published: March 2024

ABSTRACT

Aims
: Lacosamide (LCM) is a well‐tolerated and increasingly used second‐generation AED, and side effects such as atrial fibrillation are rare and poorly characterized. Supported by a literature review, we share our experience of the management of the first reported case of cardioembolic cerebral infarcts in the context of
de novo
atrial fibrillation, which appeared following a 200‐mg intravenous infusion of LCM for the treatment of non‐convulsive status epilepticus.

Methods
: Case report and literature review using search items including “atrial fibrillation OR atrial flutter AND LCM” in the thesaurus of Medline.

Results
: We found three cases of atrial fibrillation/atrial flutter secondary to LCM, one following a 200‐mg intravenous infusion. In one patient, previous risk factors for atrial fibrillation were reported and another was started on warfarin; all required suspension of LCM for cessation of atrial fibrillation. Previous risk factors for atrial fibrillation in our patient were older age, male gender, obesity, hypertension, valvular disease, first‐degree atrioventricular block and left anterior fascicle block. Atrial fibrillation appeared at the end of the infusion and ceased after a loading dose of amiodarone and suspension of LCM. Apixaban was initiated indefinitely five days later, and MRI showed four acute silent infarctions.

Conclusions
: The appearance of atrial fibrillation has severe therapeutic and clinical implications and the use of LCM might be reconsidered within a context of increased predisposition to developing atrial fibrillation. If atrial fibrillation appears, the drug should be discontinued and anticoagulation should be considered according to embolic risk. Further investigation is needed in order to better categorize the risk profile of lacosamide regarding atrial fibrillation.