bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Chinese patient with epilepsy and
WWOX
compound heterozygous mutations
Authors: He Jing , Zhou Wenjing , Shi Jie , Zhang Bingqing , Wang Haixiang 
Published: March 2024

ABSTRACT

Early infantile epileptic encephalopathy type 28 is a refractory epilepsy with early onset, poor prognosis, and hereditary causes. WW domain‐containing oxidoreductase (
WWOX
) gene mutation can result in epileptic encephalopathy, but the mechanism remains unclear. We present the case of a patient with epilepsy and
WWOX
compound heterozygous mutations. The seizures manifested as tonic‐clonic, convulsive and were refractory to drugs. Magnetic resonance imaging showed a widened subarachnoid space and thin corpus callosum. The patient died from asphyxia at the age of one year and 23 days. Peripheral blood was taken from the patient and his parents, and whole‐exome sequencing was investigated to determine possible gene mutation. Two compound heterozygous mutations were identified: c.172+1G>C (with no amino acid change) and c.984C>G (amino acid change: p.Tyr328Ter). The pathophysiology of epileptic encephalopathy related to the
WWOX
gene remains to be determined, and further studies are required to elucidate possible mechanisms.
The importance of semiological information based on epileptic seizure history
Authors: Wolf Peter , Benbadis Selim , Dimova Petia S. , Vinayan Kollencheri Puthenveettil , Michaelis Rosa , Reuber Markus , Yacubian Elza Márcia 
Published: March 2024

ABSTRACT
Semiology is the backbone of any correct categorization of seizures, as epileptic or not, focal or bilateral, and is fundamental to elucidating how they are anatomically generated in the brain. An anatomical hypothesis derived from seizure history is the precondition for optimally designed ancillary studies. Without understanding seizure semiology, no rational therapy is possible. This article describes the semiological approach using patient history based on full use of patients’ self‐reports as well as descriptions by witnesses. Auras represent the subjective aspects of seizures and provide important semiological clues as observable signs, sometimes including rather precise direct anatomical information. Methods of extracting, facilitating and analysing self‐reports including linguistic conversation analysis are presented in detail. It is highlighted that prodromes, seizure triggers and reflex epileptic mechanisms can provide crucial information for diagnostics and therapy. Special issues considering seizure semiology in children are discussed in a separate section. Other sections are dedicated to the two most important issues of differential diagnosis: how to distinguish (1) focal from “generalized” epilepsies, particularly when focal seizure phenomena appear in a bilateral epilepsy; and (2) epileptic from a series of non‐epileptic events.
Clonic convulsion caused by epileptic discharges arising from the human supplementary motor area as studied by subdural recording
Authors: Ikeda Akio , Nagamine Takashi , Kunieda Takeharu , Yazawa Shogo , Ohara Shinji , Taki Waro , Kimura Jun , Shibasaki Hiroshi 
Published: March 2024

ABSTRACT
In order to help clarify the mechanism of tonic convulsion, which is commonly seen in supplementary motor area (SMA) seizures, we investigated the temporal relationship between ictal discharges arising from the SMA and the associated EMG discharges in the foot, in a patient with SMA seizures, prior to surgical treatment. The patient's intractable seizures consisted of tonic followed by clonic convulsion of the left foot also involving at times, the left hand. Ictal EEGs were investigated by subdural electrodes placed on the SMA‐proper and pre‐SMA, which were defined by cortical stimulation and by recording cortical‐evoked potentials. Interictally, repetitive spike discharges were seen at the pre‐SMA. Each seizure initially had a tonic phase associated with an electrodecremental EEG pattern. It was followed by clonic convulsion as shown by clonic EMG discharges of the left tibialis anterior (TA) muscle. It had a duration of 300 to 500 msec, and on each occasion a positive cortical activity at the pre‐SMA preceded the EMG onset by 110 msec, and a negative spike at the SMA‐proper preceded the EMG onset by 50 to 60 msec. Epileptic discharges originating from the pre‐SMA spread to the SMA‐proper and possibly also to the primary motor cortex (MI) in this patient. Since both SMA‐proper and MI could elicit EMG discharges through the independent corticospinal tracts having different conduction velocities, even a single spike arising from the SMA could give rise to a long EMG burst, which may play some role in the tonic convulsion which characterizes SMA seizures.
Idiopathic partial epilepsy: electroclinical demonstration of a prolonged seizure with sequential rolandic and occipital involvement. Seizure spread due to regional susceptibility?
Authors: Parmeggiani Lucio , Guerrini Renzo 
Published: March 2024

ABSTRACT
Benign rolandic epilepsy (BRE) and childhood epilepsy with occipital paroxysms (CEOP) are overlapping in age range of presentation. Some children have been reported to manifest occipital and rolandic seizures, as distinct events. However, the presence during the same seizure of rolandic and occipital symptoms is exceptional. We present a 7‐year‐old boy with BRE in whom we video‐EEG recorded two seizures at 4years of age. The first episode was a classic rolandic seizure during sleep, while the second was prolonged with initial rolandic and late occipital involvement. It is possible that a rolandic seizure, in a child within the age range of both BRE and early onset CEOP, could spread to selectively involve the occipital lobe, because there is susceptibility of cortical neurons of both areas to develop seizures at this age in idiopathic partial epilepsies.
Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms
Authors: Singh Rita , Macdonell Richard A.L. , Scheffer Ingrid E. , Grassland Kathryn M. , Berkovic Samuel F. 
Published: March 2024

ABSTRACT
The epilepsies have been regarded as clinically distinct from the paroxysmal movement disorders. Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies and paroxysmal movement disorders. We studied two families with the cooccurrence of epilepsy, movement disorders and migraine.
Information was obtained on 147 individuals in the two families. In family WF, there was a co‐occurrence of epilepsy (benign infantile convulsions, idiopathic generalized epilepsy), episodic ataxia (with cerebellar atrophy and without myokymia) and common migraine. In family CL, epilepsy (febrile seizures, febrile seizures plus), kinesigenic paroxysmal dyskinesia and migraine (including hemiplegic migraine) were observed in various combinations over 3 generations.
The observations in these two families, together with review of the literature, suggest that the co‐occurrence of epilepsy (particularly benign infantile convulsions), paroxysmal movement disorders and migraine is not due to chance. Thus, these distinct clinical phenomena could have a shared biological basis and ion channel defects are an attractive possibility.
Video‐EEG telemetry: apparent manifestation of both epileptic and non‐epileptic attacks causing potential diagnostic pitfalls
Authors: Raymond A.A. , Gilmore W.V. , Scott C.A. , Fish D.R. , Smith S.J.M. 
Published: March 2024

ABSTRACT
Video‐EEG telemetry is often used to support the diagnosis of non‐epileptic seizures (NES). Although rare, some patients may have both epileptic seizures (ES) and NES. It is crucially important to identify such patients to avoid the hazards of inappropriate anticonvulsant withdrawal. To delineate the electroclinical characteristics and diagnostic problems in this group of patients, we studied the clinical, EEG and MRI features of 14 consecutive patients in whom separate attacks, considered to be both NES and ES were recorded using video‐EEG telemetry. Only two patients were drug‐reduced during the telemetry. Most patients had their first seizure (ES or NES) in childhood (median age 7 years; range: 6 months‐24 years); 8/14 patients were female. Brain MRI was abnormal in 10/14 patients. Interictal EEG abnormalities were present in all patients; 13/14 had epileptiform and 1/14 only background abnormalities. Over 70 seizures were recorded in these 14 patients: in 12/14 patients, the first recorded seizure was a NES (p < 0.001), and 7 of these patients had at least one more NES before an ES was recorded. Only 3/14 patients had more than 5 NES before an ES was recorded. Recording a small number of apparently NES in an individual by no means precludes the possibility of additional epilepsy. Particular care should be taken, and multiple (>5) seizure recording may be advisable, in patients with a young age of seizure onset, interictal EEG abnormalities, or a clear, potential aetiology for epilepsy.
Research perspectives in cortical dysplasia and associated epilepsies
Authors: Munari Claudio , Tassi Laura , Russo Giorgio Lo , Francione Stefano , Mai Roberto , Cardinale Francesco , Spreafico Roberto 
Published: March 2024

ABSTRACT
Our understanding of cortical alterations and related epilepsies has grown enormously in the last decade thanks to the explosion of basic information from laboratory neuroscience combined with advances in diagnostic tools, therapeutic approaches and surgical techniques.
In the present paper, we briefly review the most important advances in these fields from the point of view of the clinician concerned with cortical malformation‐related epilepsies. We propose that a highly effective way forward, expected not only to widen knowledge of the basic mechanisms of seizure generation, but also to improved the management of patients, would be to promote interdisciplinary research programmes on resected human cortex that involve neurosurgeons, neurologists and laboratory neuroscientists.
Catastrophic epilepsy in infants and children: Identification of surgical candidates
Authors: Wyllie Elaine 
Published: March 2024

ABSTRACT
Some pediatric candidates for epilepsy surgery have epilepsy which is considered catastrophic because of a high seizure frequency, often many per day, in association with developmental stagnation or regression. Increasing numbers of infants with catastrophic epilepsy are being considered for surgical treatment, if they have the key elements of surgical candidacy including medically intractable epilepsy, a localized epileptogenic zone, and a low risk of new, unacceptable, postoperative neurologic deficits. Most of these infants have had low grade tumor, cortical development malformations, or other epileptogenic lesions visualized on preoperative MRI. The assessment of potential risks and benefits for surgery in these patients involves complex, age‐related issues including the possible impact of uncontrolled seizures or surgery, on cognitive development. This review will address some of these issues in the context of two clinical cases.
“Dual pathology” and the significance of surgical outcome in “Dostoewsky's epilepsy”
Authors: Vera C.L. , Patel S.J. , Naso W. 
Published: March 2024

ABSTRACT
A patient with a right occipital arteriovenous malformation (AVM) and seizures heralded by “lights”, and experiencing “ecstasy” underwent a right occipital lobectomy after the AVM was embolized. Thereafter, seizures began with motor arrest and lip smacking, but never again with “light and ecstasy”.
A right temporal lobectomy and electrocorticogram (E.Co.G) were performed under local anesthesia four years after occipital lobectomy. Abundant spiking activity was recorded from the right hippocampus which showed gliosis and neuronal loss in the pathology studies. Electrical stimulation of the lateral and basal temporal cortices failed to elicit the vision of “lights” or the experience of “ecstasy”.
The patient has had two seizures in the last two years as a result of a lapse in taking his anti‐convulsant medication. He now lives alone, seizure‐free.
The possible abnormally induced functional network organization and structures involved in the production of the “ecstasy” phenomenon are discussed.
Long‐term outcome of epilepsy
Authors: Sillanpää Matti 
Published: March 2024

ABSTRACT
Few prospective, population‐based, long‐term follow‐up studies exist on people with epilepsy. Still fewer reports cover social outcome. Overall mortality is two to three times higher than expected. The contribution of epilepsy is variable. Importantly, the type of epilepsy syndrome and gender must be considered in the estimation of mortality rates in epilepsy. Sudden unexpected death and its mechanisms also need further consideration. Approximately, two thirds of surviving patients will be in terminal remission twenty years after onset of epilepsy and half of them are seizure‐free without medication. The best independent predictors of remission are absence of organic brain damage, low intensity seizure propensity and good early effect of drug therapy. The long‐term outcome is often predictable by observation of the early outcome of seizures. One third of children with epilepsy are mentally retarded. Poor social outcome is related to associated neurological disabilities, drug resistant seizures and polytherapy. However, even patients with uncomplicated epilepsy, idiopathic etiology and terminal remission without medication do less favourably than their matched controls in basic and vocational education, and reproductive activity. The employability of this subgroup, however, does not differ significantly from that of controls, compared with approximately 60% of all people with epilepsy. Further research is needed particularly to enable a better determination of predictors of long‐term outcome, recurrence of seizures after drug withdrawal and the role of drug therapy in long‐term prognosis.
Continuous spikes and waves during slow sleep (CSWS): outcome in adulthood
Authors: Hommet Caroline , Billard Catherine , Barthez Marie Anne , Gillet Patrice , Perrier Daniele , Lucas Brigitte , de Toffol Bertrand , Autret Alain 
Published: March 2024

ABSTRACT
We report a longitudinal, electroencephalographic and neuropsychological analysis of epilepsy with continuous spikes and waves during slow sleep (CSWS) in a 19 year‐old boy. The clinical course fluctuated, with temporary worsening or improvement of the paroxysmal abnormalities, epilepsy and cognitive functions. At the end of the follow‐up period, seizures persisted. Evaluation of the boy's behaviour, language and cognitive function suggested a dysexecutive syndrome. We discuss the relationship between paroxysmal abnormalities and neuropsychological disorders.
Reflex epilepsy and reflex seizures of the visual system: a clinical review
Authors: Zifkin Benjamin G. , Trenité Dorothée Kasteleijn‐Nolst 
Published: March 2024

ABSTRACT
Reflex epilepsy of the visual system is charecterised by seizures precipitated by visual stimuli. EEG responses to intermittent photic stimulation depend on the age and sex of the subject and on how stimulation is performed: abnormalities are commonest in children and adolescents, especially girls. Only generalised paroxysmal epileptiform discharges are clearly linked to epilepsy. Abnormal responses may occur in asymptomatic subjects, especially children. Photosensitivity has an important genetic component. Some patients are sensitive to patterns, suggesting an occipital trigger for these events. Myoclonus and generalised convulsive and nonconvulsive seizures may be triggered by visual stimuli. Partial seizures occur less often and can be confused with migraine. Although usually idiopathic, photosensitive epilepsy may occur in degenerative diseases and some patients with photosensitive partial seizures have brain lesions. Sunlight and video screens, including television, video games, and computer displays, are the commonest environmental triggers of photosensitive seizures. Outbreaks of triggered seizures have occurred when certain flashing or patterned images have been broadcast. There are regulations to prevent this in some countries only. Pure photosensitive epilepsy has a good prognosis. There is a role for treatment with and without antiepileptic drugs, but photosensitivity usually does not disappear spontaneously, and then typically in the third decade.
Ictal spitting during a left temporal lobe‐originated complex partial seizure: a case report
Authors: Özkara Çiğdem , Hanoğlu Lütfü , Eskazan Esat , Kulaksyzoğlu Işyl Baral , Özyurt Emin 
Published: March 2024

ABSTRACT
We present a 35‐year‐old male patient with intractable temporal lobe epilepsy in whom spitting automatism was documented by ictal recordings during seizures. Spitting is an uncommon automatism and occurs mainly with right‐sided, nondominant, temporal focus. However, our patient had left mesial temporal sclerosis with nonverbal memory impairment, but intracarotid amobarbital test demonstrated language and memory dominance on the right hemisphere. The authors feel that this case supports the hypothesis of a nondominant, temporal lobe origin for the spitting automatism.
Drop episodes in Coffin‐Lowry syndrome: an unusual type of startle response
Authors: Caraballo R. , Rocha A. Tesi , Medina C. , Fejerman N. 
Published: March 2024

ABSTRACT
We present a patient with a complete Coffin‐Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are an unusual type of startle response and that they may be associated with Coffin‐Lowry syndrome.
Outcome of corpus callosotomy and other pediatric epilepsy surgery: parental perceptions
Authors: Sassower Kenneth C. , Rollinson Denise C. , Duchowny Michael 
Published: March 2024

ABSTRACT

Purpose
Parental perceptions regarding the outcome of epilepsy surgery in their children were assessed preoperatively via telephone survey.

Methods
Twenty‐seven parents – sixteen mothers (MO), eleven fathers (FA) – of sixteen children (nine boys, seven girls; ages 6 months‐18 years) with intractable epilepsy (refractory to ≥ 3 anticonvulsants) were interviewed. Twenty‐four questions were posed during single, 20‐minute sessions to both parents.

Results
A majority of parents (63% MO, 82% FA) would consider epilepsy surgery successful if it achieved ≥ 75% seizure reduction. Incomplete seizure control would even be acceptable if the overall number of seizures were reduced (69% MO, 18% FA). In order to gain seizure remissions, behavioral deterioration would be accepted (57% MO, 50% FA). Less than total seizure control would be accepted if surgery produced behavioral improvement (57% MO, 51 % FA, Kappa > 0.6). For seizure reduction, parents would accept: visual field deficits (82% MO, 67% FA), short‐term memory deficits (33% MO, 75% FA), and speech problems (56% MO, 17% FA).

Conclusion
Parents of children with medically‐resistant seizures perceive adverse physical and behavioral consequences of epilepsy surgery to be acceptable if there is adequate seizure control. Their acceptance of postoperative deficits underscores the magnitude of the handicap produced by chronic childhood epilepsy.
Reversible aphasic disorder induced by lamotrigine in atypical benign childhood epilepsy
Authors: Battaglia Domenica , Luvone Laura , Stefanini Maria‐Chiara , Acquafondata Celeste , Lettori Donatella , Chiricozzi Francesca , Pane Marika , Mittica Antonio , Guzzetta Francesco 
Published: March 2024

ABSTRACT

Purpose
We studied an eleven year‐old girl with atypical, benign partial epilepsy who acutely presented a severe aphasia associated with marked EEG deterioration after lamotrigine administration. A parallel monitoring of language disorders and EEG changes during the gradual withdrawal of lamotrigine was performed in order to evaluate their possible correlation with lamotrigine administration.

Methods
Detailed neuropsychological and linguistic examinations in association with awake and sleep EEG were periodically performed.

Results
The evolution of the aphasic disorder was closely related to the EEG abnormalities, and disappeared after the withdrawal of lamotrigine.

Conclusions
We considered the hypothesis that our case could be an expression of a paradoxical reaction to lamotrigine, in which the transitory aphasic disorder was sustained by an epileptiform electric activation.
Localisation de sources distribuées et comparaison avec PIRM fonctionnelle
Authors: Lantz Göran , Spinelli Laurent , Menendez Rolando Grave de Peralta , Seeck Margitta , Michel Christoph M. 
Published: March 2024

RÉSUMÉ
Cet article détaille l'utilisation des algorithmes de localisation des sources électriques distribuées dans le cadre d'un bilan pré‐chirurgical pour des patients épileptiques pharmaco‐résistants. Contrairement au modèle de type dipôle équivalent, les méthodes de localisation de sources distribuées permettent de déterminer une zone d'activation comme on en trouve souvent en épilepsie. Les techniques utilisées ici reposent sur des algorithmes linéaires de résolution du problème inverse. De ce fait elles sont moins enclines à produire des erreurs de localisation lorsque l'espace de solution est contraint sur la matière grise de chacun des patients. Nous proposons trois solutions pour augmenter la résolution spatiale de ces reconstructions de sources à fin de pouvoir distinguer plusieurs sources distinctes au sein d'un même lobe. La première est l'augmentation du nombre d'électrodes au‐delà de 100, la seconde est l'utilisation des méthodes linéaires de haute exactitude pour détecter des sources focales (EPIFOCUS) et la troisième est la combinaison des reconstructions de sources électriques avec les activations relevées par l'IRMf déclenchée par l'EEG. Cette dernière approche est très importante car elle permet d'ajouter aux activations hémodynamiques relevées par l'IRMf une information temporelle et donc de différencier le foyer primaire des sites de propagation. Les techniques de localisations de sources peuvent s'appliquer aux données ictales et inter‐ictales. Dans le cas de l'EEG ictal, nous recherchons, dans un premier temps, à déterminer la ou les fréquences qui apparaissent au début des crises puis nous reconstruisons les générateurs responsables de ces fréquences caractéristiques.