bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epilepsy in inborn errors of metabolism
Authors: Wolf Nicole I. , Bast Thomas , Surtees Robert 
Published: March 2024

ABSTRACT
Although inborn errors of metabolism are rarely found to be the cause of epilepsy, seizures are a frequent symptom in metabolic disorders. In a few of these, epilepsy responds to specific treatment by diet or supplementation. However, in most, no such treatment is available and conventional antiepileptic drugs must be used, often with no great success. However, because uncontrolled epilepsy will hamper development and may even lead to further cerebral damage, treatment is necessary. Seizure types are rarely specific for a particular metabolic disorder, nor are EEG findings. Other symptoms and findings must be taken into account in order to achieve a diagnosis and, in some cases, specific management. We review the main characteristics of epilepsy due to inborn errors of energy metabolism, to disturbed neuronal function due to accumulation of storage products, to toxic effects and to disturbed neurotransmitter systems. We also discuss vitamin‐responsive epilepsies and a number of other metabolic disorders focusing on possible pathogenetic mechanisms and their implication for diagnosis and treatment.
Ipsilateral head deviation related to orbito‐frontal and fronto‐polar seizures
Authors: Rheims Sylvain , Demarquay Geneviève , Guénot Marc , Sindou Marc , Mauguière François , Ryvlin Philippe 
Published: March 2024

ABSTRACT

The localizing and lateralizing values of eye and head ictal deviations during frontal lobe seizures are still matters of debate. In particular, no specific data regarding the origin of ipsilateral head turning in frontal lobe seizures are available. We report a patient with frontal lobe seizures associated with reproducible, early, ipsilateral head deviation, where imaging and videostereo‐electroencephalography data, as well as surgical outcome, demonstrated the fronto‐polar and orbito‐frontal origin of the epileptic discharge. We conclude that early ipsilateral head deviation, in the context of frontal lobe epilepsy, raises the possibility of fronto‐polar or orbito‐frontal seizure onset.
[Published with video sequences]
Mechanisms of drug resistance
Authors: Löscher Wolfgang 
Published: March 2024

ABSTRACT

Despite the use of new antiepileptic drugs, approximately one third of patients with epilepsy have seizures that cannot be controlled satisfactorily by medical treatment. Drug resistance may exist at the time of the first seizure or may develop later as result of the disease process. The mechanisms of these different scenarios are likely to be multifactorial, and may include alterations in brain uptake or brain targets of antiepileptic drugs. Such alterations may be constitutive (intrinsic), thus underlying
de novo
drug resistance in epilepsy, or induced,
e.g
., as a consequence of recurrent seizures or disease progression. Alterations in drug efflux (“multidrug”) transporters and drug targets, such as voltage‐gated sodium channels, have been found in epileptogenic brain tissue from both patients with epilepsy, and rodent models of epilepsy. However, although the multidrug transporter and target hypotheses are biologically plausible, proof‐of‐principle is lacking for these hypotheses. An advantage of the multidrug transporter hypothesis is that it can be validated both experimentally and clinically by combining antiepileptic drugs with inhibitors of such transporters. Selective inhibitors of the major efflux transporter P‐glycoprotein are currently in clinical trials for reversing chemotherapy resistance in oncology and may soon be used to determine whether such inhibitors can prevent or reverse drug resistance in epilepsy.
The effect of valproate on silent period and corticomotor excitability
Authors: Kazis Dimitrios A. , Kimiskidis Vasilios K. , Papagiannopoulos Sotirios , Sotirakoglou Kyriaki , Divanoglou Daniel , Vlaikidis Nikolaos , Mills Kerry R. , Kazis Aristeidis 
Published: March 2024

ABSTRACT

Objective
To investigate, by transcranial magnetic stimulation, the effects of valproate on silent period and corticomotor excitability. Methods: thirty patients with generalized epilepsy were studied at baseline, and re‐examined 4 (S1) and 25 (S2) weeks after the administration of valproate (mean dose: 1040 ± 284 mg). Transcranial magnetic stimulation was performed with a figure of eight coil (recording, first dorsal interosseous). Threshold was measured at 1% steps. Silent period was measured using a recently described protocol. Briefly, silent periods were elicited at 5% increments from 0 to 100% maximum stimulus intensity. At each stimulus intensity, 4 silent periods were obtained and the average value of silent period duration was used to construct a stimulus/response curve of stimulus intensity versus silent period. The resulting curves were then fitted to a Boltzman function and were statistically compared. The motor‐evoked potential recruitment curve was constructed under active conditions and analyzed in a similar way.

Results

Valproate increased threshold from 36.5 ± 5.99% at baseline to 41.02 ± 7.84% at S1 (p < 0.0001, paired t‐test). The maximum value of the silent period curve decreased from 257.5 ± 3.9 ms at baseline to 230.3 ± 3.9 ms at S1 (p < 0.0001, F‐test and AIC) while the other best‐fit values (V
50
, slope, threshold) were not significantly affected. Regarding the motor‐evoked potential recruitment curve, the maximum value decreased significantly post‐drug (from 0.449 ± 0.007 to 0.392 ± 0.009, p < 0.01, F‐test and AIC test), whereas the rest of the best‐fit values remained unaffected.

Conclusion

In patients with idiopathic generalized epilepsy, valproate increases threshold and reduces the maximum values of the silent period curve and the motor‐evoked potential recruitment curve. These findings probably reflect valproate's effects on voltage‐dependent Na
+
channels, as well as an activation of GABA
A
receptors.
Stimulus‐sensitive burst‐spiking in burst‐suppression in children: implications for management of refractory status epilepticus
Authors: Dan Bernard , Boyd Stewart G. 
Published: March 2024

ABSTRACT
Status epilepticus refractory to sequential trials of multiple medication is a rare but significant problem in children. We describe stimulus sensitivity arising during the treatment of convulsive status epilepticus in children (stimulus‐sensitive burst‐spiking in burst‐suppression). We reviewed retrospectively clinical and EEG features in six children (three months to ten years), with status epilepticus requiring intensive care, in whom tactile, auditory and visual stimulation induced myoclonic jerks and bursts of EEG spikes. Sensitivity was not present at onset, but appeared after 24 hours as myoclonic jerks of the eyes, face and limbs, irrespective of the modality and site of stimulation. These were associated with burst‐suppression in the EEG, the induced spiking forming the burst component. Various antiepileptic drugs, including GABAergic and NMDA blockers had no effect, but halogenated agents (used in two patients) abolished the sensitivity. Two children died, but the remainder returned to their previous clinical state. We conclude that stimulus sensitivity may appear in the context of refractory status epilepticus treated with high‐dose barbiturates. Outcome may be more favorable than previously reported in adults, mostly in the context of post‐anoxic or toxic coma. Evaluation of ventilated children in status epilepticus should include electroclinical assessment using sensory stimulation. If present, the drug regime should be reviewed and halogenated agents considered.
Ketogenic diet in patients with myoclonic‐astatic epilepsy
Authors: Caraballo Roberto Horacio , Cersósimo Ricardo Oscar , Sakr Diego , Cresta Araceli , Escobal Nidia , Fejerman Natalio 
Published: March 2024

ABSTRACT

For more than 80 years, the ketogenic diet has been used as an alternative to antiepileptic drugs for patients with refractory epilepsy. Myoclonic‐astatic epilepsy in early childhood is one of the malignant epilepsy syndromes that often proves refractory to antiepileptic drugs treatment.

Objective
In this prospective study we assess the efficacy and tolerability of the ketogenic diet in patients with myoclonic‐astatic epilepsy.

Material and methods
Between March 1, 1990 and August 31, 2004, 30 patients who met diagnostic criteria of myoclonic‐astatic epilepsy were seen at our department. Eleven of them were placed on the ketogenic diet using the Hopkins protocol and were followed for a minimum of 18 months.

Results
The children had previously received a mean of 5.2 different antiepileptic drugs and were on a mean of 2.2 antiepileptic drugs when the diet was started. Eighteen months after initiating the diet, six of the patients (54.5%) remained on the diet. Two patients (18%) were seizure‐free, two (18%) had a 75‐99% decrease in seizures, and the remaining two children (18%) had a 50% to 74% decrease in seizures. The first two patients were tapered off the diet after remaining seizure‐free, without antiepileptic drugs for several years. In the two patients who had sporadic seizures, antiepileptic drugs were reduced to one, and in the last two the seizure frequency was significantly reduced. No differences in seizure control were found when compared for age, sex, or seizure type. Five of our patients discontinued the ketogenic diet in less than 3 months (four because of lack of effectiveness and one because of persistent vomiting).

Conclusion
The ketogenic diet is a promising therapy for patients with myoclonic‐astatic epilepsy, with over half the children showing a > 50% reduction in seizures, and seizure‐freedom in 18%. In drug resistant cases of myoclonic‐astatic epilepsy, the diet should be considered early in the course of this syndrome and not as a last resort.
NARP syndrome and adult‐onset generalised seizures
Authors: Keränen Tapani , Kuusisto Hanna 
Published: March 2024

ABSTRACT
The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and adult onset. We describe a patient who developed clumsiness and visual problems in her teens. She had no clinical seizures but an EEG showed generalized spike and wave discharges. At this time the patient remained without a specific diagnosis. At the age of 21, the patient developed progressive ataxia and she also experienced a tonic‐clonic status epilepticus. Further examinations revealed NARP syndrome. EEG abnormalities may precede adult onset seizures in the NARP syndrome.
Ion channels and epilepsy
Authors: Mazzuca Michel , Lesage Florian , Lazdunski Michel 
Published: March 2024

ABSTRACT

Ion channels play a central role in the generation and control of neuronal excitability. Genetic defects in ion channels are associated with several forms of human idiopathic epilepsies. These defects range from nonsense and missense point mutations to insertion, truncation and splice site mutations producing altered, non‐functional or negative‐dominant channel subunits. To date, 12 mutated genes have been identified. They code for Na
+
(
SNC1A, SNC2A, SNC1B
), K
+
(
KCNA1, KCNQ2, KCNQ3
) and Cl
‐
(
CLCN2
) channel subunits, as well as neurotransmitter receptor subunits including Cl
‐
channel GABAA receptor (
GABRA1, GABRG2
) and cationic channel acetylcholine receptor (
CHRNA4, CHRNB2
). One ion transporter Na
+
/K
+
ATPase gene (
ATP1A2
) has also been identified. The epilepsy syndromes related to these genes are as diverse as benign familial neonatal (BFNC ‐
KCNQ2
and
3
) and infantile (BFNIC ‐
SNC2A
and
ATP1A2
) convulsions, episodic ataxia with seizures (AE2 ‐
KCNA1
), generalized epilepsy with febrile seizure plus (GEFS+ ‐
SCN2A, 1A, 1B
and
GABRG2
), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE ‐
CHRNA4
and
B2
), severe myoclonic epilepsy of infancy (SMEI ‐
SNC1A
), juvenile myoclonic epilepsy (JME ‐
GABRA1
and
CLCN2
), and childhood and juvenile absence epilepsy (CAE, JAE ‐
SNC1B, GABRG2
and
CLCN2
). Despite the difficulty to correlate genotypes and phenotypes, these studies have increased our understanding of causal mechanisms of epilepsy and open a wide range of possibilities for developing better antiepileptic drugs and treatments.
Cryptogenic epilepsies in children: when and how to look for a neurological disorder?
Authors: Echenne Bernard , Roubertie Agathe , Humbertclaude Véronique , Rivier François 
Published: March 2024

ABSTRACT
We present a diagnostic procedure and the corresponding aetiological investigations for a comprehensive approach of a cryptogenic epilepsy in children aged 12 months or more. According to the characteristics of the epilepsy (generalized, partial or poorly defined), the successive steps of the clinical and biological investigations are described, taking into account the patient's age and the type of seizure; the importance of some metabolic diseases and of some chromosomal abnormalities is underlined.
Avoid falling into the depths of the insular trap
Authors: Ryvlin Philippe 
Published: March 2024

ABSTRACT
Recent data have demonstrated that insular seizures can mimic those encountered in temporal lobe epilepsy (TLE), as well as nocturnal hypermotor attacks suggestive of nocturnal frontal lobe epilepsy (NFLE). To illustrate some of the issues raised by these observations, we report our first two patients with suspected TLE and NFLE, respectively, in whom we originally demonstrated an insular ictal onset zone. Patient 1 suffered from daytime seizures characterised by a rising and distressing epigastric sensation rapidly followed by oro‐alimentary automatisms, associated with right temporal scalp‐EEG ictal discharge. Neuroimaging showed consistent right temporal abnormalities, including MRI signs of hippocampal sclerosis, anterior and mesial glucose hypometabolism, and mesial decrease of benzodiazepine receptors. Intracerebral EEG investigation was primarily performed because of several ictal signs and symptoms suggesting a rapid involvement of the perisylvian region, and showed that the patient suffered two types of seizure, one of which arose from the mesial temporal structures, the other was sleep‐related and originated in the posterior‐inferior portion of the insula. Anterior temporal lobectomy failed to control this second type of seizure. Patient 2 suffered from brief, nocturnal, hypermotor seizures characterised by an indefinable aura followed by agitation, body rolling, scream and pelvic thrust. Interictal and ictal scalp‐EEG failed to detect epileptiform discharges, whereas neuroimaging showed left mesial frontal, glucose hypometabolism and decreased benzodiazepine receptors associated with a left fronto‐basal arachnoidal cyst. Invasive EEG monitoring was performed with the aim of identifying an orbital or mesial frontal ictal onset, but eventually demonstrated that the seizure originated in the anterior‐superior portion of the left insula. The patient did not undergo surgery and died of SUDEP two years later. We discuss the heterogeneity of insular seizure semiology according to functional anatomy, the clinical signs and symptoms that might suggest an insular ictal onset, the indications and types of invasive EEG monitoring that are needed to identify an insular epileptogenic zone definitively, as well as potential surgical treatment.
Video‐EEG analysis of ictal repetitive grasping in “frontal‐hyperkinetic” seizures
Authors: Gardella Elena , Rubboli Guido , Tassinari Carlo Alberto 
Published: March 2024

ABSTRACT
The aim of this study was to obtain a qualitative and quantitative description of the phenomenon of forced prehension during epileptic seizures (ictal grasping‐ IG) with hyperkinetic semiology. We analysed retrospectively the presurgical, video‐EEG recordings of 35 “frontal hyperkinetic” seizures (FHS) in 14 patients (age range: 9‐48 years) evaluating the features of ictal grasping by means of off‐line, frame‐by‐frame video‐analysis. Ictal grasping was observed in 97.1% of the frontal hyperkinetic seizures in 100% of the patients, with a mean latency of 3.2 seconds with respect to seizure‐onset; a mean number of 7.7 IG per seizure were detected. During the same FHS, both arms could perform IG in an alternating fashion. Grasping was usually preceded by a reaching movement and followed by holding or pulling. The sites of prehension were restricted to relatively few sectors, either on the patient's body (45.5%) or the peri‐personal space (54.5%). In some cases, the grasping was elicited by hand touching. We did not find a consistent relationship between side of hand grasping and side of ictal EEG discharge or MRI lesion. In conclusion, ictal grasping is an extremely frequent clinical manifestation during FHS. It was an early, forced and repetitive motor behavior, without a clear lateralizing value. Ictal grasping appeared with consistent semiological features, similar to voluntary prehension, suggesting a probable ictal release of physiological grasping behavior.

[Published with video sequences]
SigRecover: Recovering Signal from Noise in Distributed Acoustic Sensing Data Processing
Authors: Chen Yangkang 
Published: March 2024

Abstract
Because of the harsh deployment environment of the fibers, distributed acoustic sensing (DAS) data usually suffer from the low signal-to-noise ratio issue. Many methods, whether simple but efficient or sophisticated but effective, have been proposed for dealing with noise and recovering signals from DAS data. However, no matter what methods we apply, we will inevitably damage the signals, more or less, resulting in coherent signal leakage in the removed noise. Here, we present a method (SigRecover) for minimizing signal leakage by recovering useful signals from removed noise and its open-source package (see Data and Resources). We apply a robust dictionary learning framework to retrieve the coherent signals from removed noise that can be captured by a pretrained library of atoms (features). The atoms are obtained by a fast dictionary-learning approach from the initially denoised data. The proposed framework is a self-learning methodology, which does not require additional training datasets and thus is conveniently applicable to any input data. We use three well-processed examples from the literature to demonstrate the generic performance of the proposed method. The idea behind this article is inspired by similar methods widely used in the exploration seismology community for retrieving signal leakage and is promising not only for DAS data processing, but also for all other multichannel seismological datasets.
Case-based EBM instruction for Osteopathic Medical Students: A Case Report
Authors: Lipke Laura 
Published: March 2024

Background: Evidence-based medicine (EBM) is an important part of graduate medical education and a learning outcome necessary for preparing students to become effective residents. However, many medical educators and librarians struggle to offer EBM instruction that is contextualized, relevant, and engaging. Case-based learning (CBL) can establish the relevance of EBM instruction sessions by using clinical scenarios that link theory to practice.

Experience: This case report describes how a college of osteopathic medicine (COM) liaison librarian redesigned a large cohort, lecture-based learning approach to EBM instruction into interactive, relevant, and contextualized CBL labs. CBL labs with smaller student groups were designed to provide an active learning environment and encourage peer-to-peer learning. The CBL format has been previously applied to EBM instruction but not quantifiably evaluated. A modified rubric was created to provide a quantifiable measurement of student performance in future evaluations.

Discussion: First-year osteopathic medical students participated in CBL sessions, integrating EBM into their curriculum. The small groups facilitated personalized guidance, peer-to-peer learning, and critical thinking. Clinical scenarios that were mapped to the students’ curriculum provided relevance to the learning experience.

The CBL format allowed the librarian to support students individually and increased engagement compared to lecture-based learning. Challenges included assessing the students’ prior EBM knowledge and the time commitment for a solo librarian. However, group assignments and a grading rubric helped to minimize the challenge.

Conclusion: The initial pilot testing of this instructional design format and rubric has shown promise in reaching the objectives of providing a relevant and active learning platform with quantifiable results. A future randomized controlled trial is planned to provide quantifiable evidence supporting CBL labs for EBM instruction when compared to lecture-based learning
A mismanaged case of post herpetic nasal stenosis: a salvage story
Authors: Shetti Preeti S. , E. V. Manishaa , Rai Akash 
Published: March 2024

Acquired nasal stenosis is due to loss of vestibular lining because of scar contracture or direct injury to the lobule-ala-columella complex. We present a patient of Herpes zoster mismanagement with scarring of the right nasal cavity who was treated by placing a stent to achieve nasal patency. A 47-year-old male, previously diagnosed to have Herpes zoster, presented with complaints of right nasal obstruction, discolouration of skin and burning sensation over the right cheek and nose. He had applied an herbal paste given by quacks which led to scarring and hypopigmentation over the face. He tried peeling the scab off which resulted in a skin contracture and right nasal obstruction. Local examination revealed multiple erythematous hypopigmented plaques over the right maxillary region, scarring over the right lateral aspect of the dorsum, ala and tip and a skin contracture causing stenosis of the right anterior nares. The stenosed area was excised and diagnostic nasal endoscopy showed collapse of the ala and the vestibular region in the right nasal cavity. A red rubber catheter was used as a stent and sutured in place at the ala. Postoperatively, nasal cavity patency was maintained. Herpes zoster is usually self-limiting and treatment with analgesics suffices. Antiviral medication and corticosteroids may alleviate severe pain. However, mismanagement of the lesions by taking local herbal paste and medicines can lead to exacerbation of the lesions and complications like nasal stenosis.