bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paroxysmal tonic upgaze of childhood with co‐existent absence epilepsy
Authors: Luat Aimée F. , Asano Eishi , Chugani Harry T. 
Published: March 2024

ABSTRACT
Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2‐year‐old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nodding and unresponsiveness. Video‐EEG captured absence seizures and he was treated with valproate, which led to improvement of his seizures. However, two weeks after treatment, he developed paroxysmal episodes of “eyes up and chin down” movements lasting for hours at a time which were captured by home video. The episodes were relieved by sleep and exacerbated by fever, stress and even tactile stimulation. Increasing the dose of valproate resulted in increased frequency of the episodes. A repeat video‐EEG disclosed the non‐epileptic nature of these events. Discontinuation of valproate dramatically decreased the episodes. This case illustrates that paroxysmal tonic upgaze of childhood may co‐exist with early onset absence epilepsy. Furthermore, valproate treatment may be associated with the development or unmasking of PTU suggesting that the pathophysiology of PTU may involve abnormal GABA neurotransmission.

[Published with videosequences]
Lingual epilepsia partialis continua in a girl
Authors: Vukadinovic Zoran , Hole Michael K. , Markand Omkar N. , Matt Bruce H. , Sokol Deborah K. 
Published: March 2024

ABSTRACT
Epilepsia partialis continua (EPC) is characterized by focal seizures that cannot be stopped. The most common cause of EPC in children is Rasmussen's encephalitis. In this video case report, we describe an 11‐year old female with continuous lingual EPC for two years. She has shown no signs of Rasmussen's Encephalitis or other neurodegenerative process and structural MRI is normal.

[Published with video sequences]
Juvenile myoclonic epilepsy starting in the eighth decade
Authors: Tóth Vanda , Rásonyi György , Fogarasi András , Kovács Norbert , Auer Tibor , Janszky Jószef 
Published: March 2024

ABSTRACT
Juvenile myoclonic epilepsy (JME) typically begins at age 10‐17 years. We present two patients, with no previous history of epileptic seizures, in whom JME began after the age of 70. The clinical picture of these patients did not differ from “typical” JME except for the patient's age and age at epilepsy‐onset. We suggest that not only symptomatic epilepsy, but also some idiopathic epilepsies, can begin or can be reactivated in elderly people. This may be more evidence that susceptibility to epileptic seizures is increased after 60 years of age.
Partial agenesis of the corpus callosum in a patient with juvenile myoclonic epilepsy
Authors: Grewal Harpreet K. , Almullahassani Ameer , Grewal Jai , Slater Jeremy D. 
Published: March 2024

ABSTRACT
We describe a patient who presented at our epilepsy‐monitoring unit with myoclonic jerks, and was diagnosed with juvenile myoclonic epilepsy (JME). Imaging of his brain revealed partial agenesis of the corpus callosum (ACC). We discuss the known genetic basis of both JME and ACC, as well as the role of the corpus callosum (CC) in primary generalized epilepsy. Both JME and ACC are associated with gene loci on chromosome 15q14. Structural brain abnormalities other than ACC, such as atrophy of the corpus callosum have been reported in patients with JME. ACC has been associated with seizures, suggesting an anti‐epileptogenic role of the corpus callosum. On the other hand, corpus callosotomy is used to treat refractory idiopathic generalized epilepsy, which shows that the corpus callosum may play an epileptogenic role. The occurrence of both these conditions in one patient raises the question of whether they are purely coincidental or if there is a common basis for both. Several issues need to be addressed: the mechanism of seizure generalization in the setting of partial ACC, the possible role of other structures in generalization, and whether the ACC contributes to epileptogenesis as a result of the lack of a normal CC inhibitory effect.
Blockade of androgen receptors is sufficient to alter the sexual differentiation of the substantia nigra pars reticulata seizurecontrolling network
Authors: Heida James G. , Velíšková Jana , Moshé Solomon L. 
Published: March 2024

ABSTRACT

The substantia nigra pars reticulata (SNR) controls seizures in a sex‐specific manner. At postnatal day 15 (P15), SNR infusion of GABA
A
receptor agonist muscimol have proconvulsant effects in males but not in females. In males, administration of an androgen receptor antagonist flutamide between P0‐P2 led to the disappearance of the proconvulsant muscimol effects at P15. Thus, activation of androgen receptors is important for the presence of procon‐vulsant SNR muscimol responses.
Ictal eructation: a case report
Authors: Mestre Tiago A. , Bentes Carla , Pimentel José 
Published: March 2024

ABSTRACT
Gastrointestinal symptoms are considered manifestations of ictal phenomena. Eructations are only rarely described. The present case illustrates eructation as an ictal sign in a patient with symptomatic refractory epilepsy and a left temporal lesion submitted to video‐EEG monitoring. The ictal EEG reveals a generalized attenuation of background activity followed by a lateralised right anterior temporal theta rhythmic activity. Eructations take place during the initial generalized ictal EEG changes. The rarity of the ictal eructation is emphasised, and the potential localizing and lateralizing value are discussed in the present case.

[Published with video sequences]
Clinical impact of a high‐frequency seizure onset zone in a case of bitemporal epilepsy
Authors: Jiruska Premysl , Tomasek Martin , Netuka David , Otahal Jakub , Jefferys John G.R. , Li Xiaoli , Marusic Petr 
Published: March 2024

ABSTRACT
High‐frequency activity has been described as having a role in the initiation of epileptic seizures. The case of a patient with refractory bitemporal epilepsy is presented. Extraoperative monitoring with depth and subdural electrodes revealed an ictal pattern with a build‐up of high‐frequency (> 80 Hz) activity originating in the cortex, with spread to both hippocampi. This observation was only revealed with the use of high‐pass filtering, and represented crucial information that significantly influenced the decision about the side, localization and extent of resection. Removal of the cortex generating high‐frequency activity, led to cessation of seizures in this patient. Current knowledge about the role of high‐frequency activity and the case presented here support the importance of recording with equipment capable of detecting fast activity during the presurgical invasive monitoring. An active search for a high‐frequency seizure onset zone in patients with structurally‐unaffected hippocampi may improve the outcome beyond that possible with conventional bandwidth, invasive EEG recordings.

[Published with video sequences]
Psychosocial impact of epilepsy in women of childbearing age in India
Authors: Sachin Sureshbabu , Padma Madakasira V. , Bhatia Rohit , Prasad Kameshwar , Gureshkumar C. , Tripathi Manjari 
Published: March 2024

ABSTRACT
The aim was to evaluate comprehensively the psychosocial impact of epilepsy in women between 15‐40 years of age with epilepsy, compared to those with migraine and healthy, pregnant women. One hundred women with epilepsy, 50 with migraine and 100 healthy, pregnant women were enrolled over a two‐year period. The three groups were assessed using questionnaires for quality of life (QOL), coping strategies and caregiver burden. The influence of demographic and seizure variables on these psychosocial outcomes were also assessed. It was found that quality of life was least, and the burden experienced by the caregiver was significantly more in patients with epilepsy (p < 0.001). Women with epilepsy relied more on religion/faith as a coping method (p = 0.021), and less on problem solving strategies (p < 0.001) when compared to those with migraine. When compared to healthy, pregnant women, they more frequently employed religious methods of coping and denial (p < 0.001), with significantly less use of problem solving techniques, acceptance, and positive and negative distraction(p < 0.001). Less frequent seizures, better education and remission sustained for at least six months, were associated with better QOL. Educational status, frequency of seizures and time elapsed since last seizure emerged as significant determinants of coping behaviour. Low educational status and monthly income of the family contributed significantly to caregiver burden. This study helped to identify the different areas of psychosocial impairment in patients with epilepsy, as well as the contributing factors. Women with epilepsy rarely used constructive coping strategies, and this was found to contribute to their poor psychosocial status and adjustment within the family and society at large.
Pre‐surgery expectations and post‐surgery life‐changing validation process
Authors: Salgado Priscila Camile Barioni , Fernandes Paula Teixeira , Cendes Fernando 
Published: March 2024

ABSTRACT
This study aimed to validate two instruments that evaluate pre‐surgery expectations and post‐surgery life changes of people with epilepsy. The expectations questionnaire comprises 18 yes/no questions and the life changes questionnaire 25 yes/no questions, which includes the 18 questions of the expectations questionnaire plus seven negative questions, considering that the surgery could have a negative effect on the patient quality of life. There were also questions asking the patients to state if they consider the surgery to be a success or a failure, and about the frequency of seizures and their intensity. Patients were interviewed in three different phases: pre‐surgery, post‐surgery 1 (six months after surgery) and post‐surgery 2 (12 months after surgery). The internal consistency of the instruments showed a general Kuder‐Richardson coefficient of 0.855 (pre‐surgery), 0.833 (post‐surgery 1), 0.756 (post‐surgery 2), showing that both instruments have a satisfactory content validity and high internal consistency. In this context, the answers obtained in this study are important because they represent the development of a complete set of categorical instruments to evaluate pre‐surgery epilepsy expectations and post‐surgery life changes.
Early seizure propagation from the occipital lobe to medial temporal structures and its surgical implication
Authors: Usui Naotaka , Mihara Tadahiro , Baba Koichi , Matsuda Kazumi , Tottori Takayasu , Umeoka Shuichi , Nakamura Fumihiro , Terada Kiyohito , Usui Keiko , Inoue Yushi 
Published: March 2024

ABSTRACT
Intracranial EEG documentation of seizure propagation from the occipital lobe to medial temporal structures is relatively rare. We retrospectively analyzed intracranial EEG recorded with electrodes implanted in the medial temporal lobe in patients who underwent occipital lobe surgery. Four patients with occipital lesions, who underwent intracranial EEG monitoring with intracerebral electrodes implanted in the medial temporal lobe prior to occipital lobe surgery, were studied. Subdural electrodes were placed over the occipital lobe and adjacent areas. Intracerebral electrodes were implanted into bilateral hippocampi and the amygdala in three patients, and in the hippocampus and amygdala ipsilateral to the lesion in one. In light of the intracranial EEG findings, the occipital lobe was resected but the medial temporal lobe was spared in all patients. The follow‐up period ranged from six to 16 years, and seizure outcome was Engel Class I in all patients. Sixty six seizures were analyzed. The majority of the seizures originated from the occipital lobe. In complex partial seizures, ictal discharges propagated to the medial temporal lobe. No seizures originating from the temporal lobe were documented. In some seizures, the ictal‐onset zone could not be identified. In these seizures, very early propagation to the medial temporal lobe was observed. Interictal spikes were recorded in the medial temporal lobe in all cases. Intracranial EEG revealed very early involvement of the medial temporal lobe in some seizures. Seizure control was achieved without resection of the medial temporal structures.
Anatomo‐electro‐clinical correlations: the Miami Children's Hospital, USA Case Report ‐ Case 04‐2008: MRI‐negative frontal lobe epilepsy with ipsilateral akinesia and reflex activation
Authors: Malone Stephen , Miller Ian , Jakayar Prasanna , Resnick Trevor , Bhatia Sanjiv , Duchowny Michael 
Published: March 2024

ABSTRACT

[Case records of
Epileptic Disorders.
Anatomo‐electro‐clinical correlations. Case 04‐2008]

The preoperative assessment and surgical management of children and young adults with MRI‐negative, frontal lobe epilepsy is often challenging owing to the semiologic expression being unusual or non‐lateralizing. Localization based on functional tests may be non‐convergent, further compounding the difficulty of surgical planning. We describe a patient with seizures presenting with early, subjective akinesia of the dominant hand that were at times triggered by repetitive motor tasks. Subdural EEG monitoring revealed seizure‐origin in the ipsilateral dorsolateral frontal lobe. After resective surgery the patient has had a seizure free period of 9 months, and is free of deficits. This is the first report of frontal lobe seizure semiology consisting of ipsilateral ictal akinesia.
[Published with video sequences]
Effect of levetiracetam on cognitive functions and quality of life: a one‐year follow‐up study
Authors: López‐Góngora Mariana , Martínez‐Domeño Alejandro , García Carmen , Escartín Antonio 
Published: March 2024

ABSTRACT

Purpose
The purpose of the study was to assess changes in cognitive functions and quality of life in patients with epilepsy over one year of treatment with levetiracetam (LEV) as add‐on therapy.

Methods
Thirty‐two patients (16 women; 16 men) who received LEV as an add‐on treatment were included, and 27 completed the one‐year follow‐up period. Extensive neuropsychological assessments, together with a quality‐of‐life questionnaire were administered at baseline and at one, three, six and twelve months after beginning the add‐on treatment. Patients received LEV starting with 500 mg/day in the first week, increasing by a further 500 mg/day per week until a target dose of 2 000 mg/day was reached by the end of the first month.

Results
At the one‐year follow‐up, a significant improvement was observed in measurements of prospective memory, working memory, motor functions, verbal fluency, attention and quality of life. Performance for neuropsychological and quality‐of‐life tests was not affected by external variables such as seizure reduction or changes in previous anti‐epileptic treatment. Slight changes between patients were observed, but these were not clinically significant. The limited sample size and the lack of a control group should be mentioned as limitations of the study. No control group was evaluated as in our clinical practice it was difficult to establish a comparable group of patients. Changes in the different variables were assessed by comparing baseline information with follow‐up results. Despite the study limitations, we consider that the one‐year treatment period provides valuable information regarding the drug's long‐term effects in this setting.

Conclusions
Results of the present study suggest that long‐term LEV treatment as add‐on therapy does not interfere with cognitive function and improves quality of life.
Rasmussen's encephalitis and Behcet's disease: autoimmune disorders in first degree relatives
Authors: Kinay Demet , Bebek Nerses , Vanli Ebru , Gurses Candan , Gokyigit Ayşen , Andermann Frederick 
Published: March 2024

ABSTRACT
We report a patient with adolescent‐onset, Rasmussen's encephalitis, presenting with intractable focal seizures, mild hemiparesis, cognitive impairment, dystonia, and severe hemiballism. His father had Behcet's disease, considered to be an autoimmune disorder. Recent reports have directly implicated the role of cytotoxic T lymphocytes in the pathogenesis of both Rasmussen's encephalitis and Behcet's disease. The occurrence of Behcet's disease and Rasmussen's encephalitis in the same family suggests involvement of common genetic factors such as HLA haplotypes in both autoimmune disorders. It is possible that members of this family are genetically susceptible to developing autoimmune conditions that have been precipitated by separate environmental triggers.
The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy
Authors: Koh Susan , Jayakar Prasanna , Resnick Trevor , Alvarez Luis , Liit Richard E. , Duchowny Michael 
Published: March 2024

ABSTRACT
Although multiple cortical tubers are a hallmark of tuberous sclerosis complex (TSC), seizures often originate from a single tuber, making excisional surgery a therapeutic option for intractable patients. To assess the role of ictal single photon emission computed tomography (SPECT) in defining the epileptogenic tuber, we reviewed videoelectroencephalography (V/EEG) data, magnetic resonance imaging (MRI) and SPECT scans of 15 patients (aged 3 months to 15 years, mean 5.1) with medically resistant partial seizures and TSC. SPECT scans were performed using Tc‐99m‐hexamethylpropyleneamine oxime (HMPAO) injected within 30 seconds of electrographic seizure onset and were graded on a scale from 1 to 5 (1 weakly perfused, 5 strongly perfused). The scalp EEG revealed localized seizure origin in ten patients; five had concordant hyperperfused SPECT regions consisting of comma‐shaped areas surrounding hypoperfused areas in the candidate tuber. Strongly hyperperfused regions (grade 3‐5) were noted in two patients whose ictal EEG patterns were characterized by sustained, rhythmic fast activity or spiking. The other five patients had nonlocalizing or poorly sustained ictal EEG patterns; one patient in this group had focal hyperperfusion. Invasive EEG recordings in two patients revealed propagated EEG patterns that correlated with the ictal SPECT findings. These findings indicate a strong correlation between ictal SPECT and ictal scalp EEG, especially when there are sustained rhythmic fast ictal EEG patterns.
Repetitive sleep starts in neurologically impaired children: an unusual non‐epileptic manifestation in otherwise epileptic subjects
Authors: Fusco Lucia , Pachatz Christa , Cusmai Raffaella , Vigevano Federico 
Published: March 2024

ABSTRACT
Sleep starts, also called hypnagogic or hypnic jerks, are bilateral, sometimes asymmetric, usually single, brief body jerks that coincide with sleep onset. We describe sleep starts occurring repetitively in three epileptic children with spastic‐dystonic diplegia and mental retardation. Repetitive sleep starts began at age 18 months in two children and at 9 months in the third. All three children had had feto‐neonatal asphyxia; two presented with spastic and one with dystonic tetraparesis. One had West syndrome and two had partial motor seizures in the first year of life. Seizures were controlled in all three patients by antiepileptic drug therapy. Video/EEG recordings of all the children during the afternoon nap revealed clusters of sleep starts during the transition between wakefulness and sleep. Cluster lasted 4‐15 min and comprised from twenty to twenty‐nine contractions. The EEG counterpart of the event sometimes showed an arousal response, at times inducing complete awakening. Repetitive sleep starts should be recognized and clearly differentiated from epileptic seizures, especially if they appear in epileptic subjects. In neurologically compromised patients, they could represent an intensification of an otherwise normal event, due to the lack of strong inhibitory influence of the pyramidal tract resulting from the pyramidal lesion.
Seizure with prominent tonic initial signs followed by psychomotor features: a case report clinically manifesting an unusual ictal evolution
Authors: Ikeda Akio , Sengoku Akira , Aoyagi Nobuhisa , Kubota Yasutaka , Matsumoto Riki , Ohara Shinji , Kunieda Takeharu , Kimura Kaku , Takahashi Jun , Miyamoto Susumu , Shibasaki Hiroshi 
Published: March 2024

ABSTRACT
A clinically tonic seizure phase, immediately followed by psychomotor features (right hand dystonic posture, left hand and oral automatisms), was recorded by video and EEG, in a patient who had gliosis of the left temporal lobe and left hippocampal atrophy. Interictal epileptiform discharges were frequently seen in the left temporal area, and at the time of the tonic seizure phase, ictal spike discharges were continuously observed at the left posterior temporal area, which was recognized only by applying a high frequency filter (HFF) of 15 Hz to the digitally recorded EEG because EMG artifacts totally obscured the EEG with a HFF of 60 Hz. It is most likely that tonic seizure can occur in an adult patient with temporal lobe epilepsy, and it is speculated that an epileptogenic focus might activate a certain brain area which is regarded as a symptomatogenic zone for tonic seizures. If the tonic seizure phase is immediately followed by psychomotor features as seen in the present patient, the former could be due to focal epilepsy.
Effects of valproate, vigabatrin and tiagabine on GABA uptake into human astrocytes cultured from foetal and adult brain tissue
Authors: Fraser Caroline M. , Sills Graeme J. , Butler Elaine , Thompson George G. , Lindsay Kenneth , Duncan Roderick , Howatson Alan , Brodie Martin J. 
Published: March 2024

ABSTRACT
The antiepileptic agents sodium valproate (VPA), vigabatrin (VGB) and tiagabine (TGB) have been proposed to exert their effects, at least in part, by an action on the transport of the inhibitory neurotransmitter y‐aminobutyric acid (GABA). This information has, however, been gleaned from studies employing experimental systems derived from animal tissues. We have conducted preliminary studies of the effects of VPA, VGB and TGB on the transport of GABA into primary cultures of human astrocytes, derived from both adult and foetal tissues. Astrocytes were prepared from cerebral cortical tissue obtained from patients undergoing surgery for intractable epilepsy, and from spontaneously aborted foetuses (16‐24 weeks gestation). The cells were isolated via a series of enzymatic digestions, grown under standard culture conditions for around 21 days and then assayed for GABA uptake activity. VPA (1,000 μM), VGB (100 μM) and TGB (200 nM) all significantly (p < 0.05) reduced the uptake of GABA into primary cultures of human adult astrocytes following a one hour exposure. VPA (1,000 μM) and VGB (100 μM) similarly reduced GABA uptake into astrocytes derived from human foetal tissue, while TGB (200 and 500 nM) was without effect. The results of these preliminary studies suggest that VPA and VGB reduce GABA transport into both adult‐ and foetally‐derived human astrocytes, whereas TGB appears active only in cells cultured from adult brain. Delayed development of the GAT‐1 transporter in foetal tissue could explain this observation.