bluuebunny/crossref_metadata_2025_split huggingface dataset:
Anatomo‐electro‐clinical correlations: the Great Ormond Street Hospital, UK Case Report ‐ Case 05‐2008: Early‐onset symptomatic focal epilepsy: a dilemma in the timing of surgery
Authors: Desai Neely , Pressler Ronit M. , Jolleff Nicola , Clark Maria , Neville Brian , Eltze Christin , Harkness William , Cross J. Helen 
Published: March 2024

ABSTRACT

[Case records of
Epileptic Disorders.
Anatomo‐electro‐clinical correlations. Case 05‐2008]

We report the case of a six‐year‐old boy who presented in infancy with infantile spasms and left focal seizures. An MR scan at two months was suggestive of a right parietal cortical dysplasia, although this was less apparent on repeat scan at 11 months. The initial response to anti‐epileptic medications was good; surgery was therefore deferred at that time. Subsequently, seizure control fluctuated and developmental progress was, on the whole, good. However, ultimately seizures increased despite changing the AED, and he began showing developmental problems. Surgery was reconsidered. Again, a repeat MR scan did not define the lesion well. Following full further evaluation, including functional imaging that still implicated the right parietal cortex, subdural grid and depth electrode monitoring were undertaken at 6.5 years, which located the ictal onset zone deep within the lesion. This enabled a right inferior parietal lobe resection to be performed. Four years post‐surgery he remains seizure‐free and has shown progress in development.
Seizure‐related automatic locomotion triggered by intracerebral electrical stimulation
Authors: Gardella Elena , Rubboli Guido , Francione Stefano , Tassi Laura , Russo Giorgio Lo , Grillner Sten , Tassinari Carlo Alberto 
Published: March 2024

ABSTRACT

We describe the case of an eight‐year‐old boy, who underwent a video‐stereo EEG (SEEG) investigation for the presurgical assessment of drug‐resistant epilepsy, related to a right fronto‐lateral cortical dysplasia and who became seizure‐free after epilepsy surgery. The unexpected finding of the investigations was that intracerebral, high frequency (50 Hz) electrical stimulation (HFS) triggered the emergence of automatic and involuntary forward‐backward locomotion during a focal seizure while the boy was standing. This clinical manifestation was different from the chaotic motor activity described during epileptic wanderings. The stimulation of the same fronto‐lateral region, while the patient was lying, produced only the subjective sensation that the legs were moving, although there was no physical manifestation of this. Human locomotion is an innate motor behavior that is normally due to the activation of the spinal network for locomotion (central pattern generator). The emergence of different stereotyped motor behaviors during focal epileptic seizures or sleep disorders has recently been interpreted as a release of subcortical central pattern generators (Tassinari
et al.
2005). In view of this, we hypothesize that the involuntary and robot‐like locomotion of our patient could be the ictal expression of the release of subcortical locomotor CPGs.
[Published with video sequences]
Catatonic psychosis related to forced normalization in a girl with Dravet's syndrome
Authors: Gobbi Giuseppe , Giovannini Simona , Boni Antonella , Visconti Paola , Beghi Massimiliano , Cornaggia Cesare Maria 
Published: March 2024

ABSTRACT

It has been reported that the clinical presentation of forced normalization can vary from paranoid hallucinatory states to anxiety and conversion phenomena, and that it may occur in both generalised and focal epilepsies. On the basis of the evaluation of a video recording, we found that forced normalization was concomitant with catatonic psychosis in a patient with epilepsy, intellectual disability and pervasive developmental disorder. Catatonic psychosis accompanying forced normalization has not been previously reported. As the psychotic symptoms and quality of life worsen seizure control improves, we believe it may be better for the patient to tolerate some seizures, thus preserving their capacity to interact socially.
[Published with video sequences]
Benign myoclonus of early infancy
Authors: Pachatz Christa , Fusco Lucia , Vigevano Federico 
Published: March 2024

ABSTRACT
Benign myoclonus of early infancy, first described by Fejerman and Lombroso, is a paroxysmal phenomenon of the first 2 years of life which occurs in neurologically healthy infants during wakefulness, and is usually triggered by excitement or frustration. We studied the neurophysiological features of the phenomenon in five children, aged 7 to 11 months, who were monitored by video‐EEG recording, and by polygraphic recording in 3 of the 5 cases. The phenomenon is characterized by a shudder‐type, paroxysmal motor manifestation involving mainly the trunk and sometimes the head, associated with tonic limb contractions of variable intensity, from hardly noticeable to more sustained. The EEG counterpart never showed modifications, the polygraphic study demonstrated a brief tonic limb contraction. The clinical manifestation should not be confused with the spasms of epileptic infantile spasms syndrome, or with tonic reflex seizures of early infancy. Although the phenomenon is already widely known, its polygraphic recording is rarely reported in literature. The polygraphic data of our patients contributes to the diagnosis and understanding of the pathophysiology of this paroxysmal manifestation.
Tactile evoked spikes in children
Authors: De Marco Pasquale , Calzolari Stefano 
Published: March 2024

ABSTRACT
Tactile evoked spikes (TES) are a well known EEG feature in children. We reviewed our previous studies concerning this phenomenon, with special reference to the influence of sleep and stimulation rate, the relation with middle‐long latency somatosensory evoked potentials (MLSEP) and the relation between TES and spontaneous spikes in the same individual. New data were obtained by re‐evaluating 566 children with TES, by assessing MLSEP from each finger, in 15 subjects with TES, and by studying MLSEP following posterior tibial nerve stimulation in 12 children with TES.
TES appear to be enlarged components of MLSEP which are present in some children aged 4 to 14 years; they tend to increase during NREM sleep and to decrease during REM sleep; Their amplitude decreases at stimulation rates above 3 Hz. TES are associated with an increased risk of epileptic seizures, which usually have a benign prognosis. The possible neurophysiological mechanisms underlying this phenomenon are discussed.
Somatosensory evoked potentials and EEG findings in siblings of juvenile myoclonic epilepsy patients
Authors: Atakli D. , Soysal A. , Atay T. , Altintas H. , Arpaci B. , Baybas S. 
Published: March 2024

ABSTRACT

Purpose
In order to demonstrate cortical hyperexitability and to determine the efficacy of 'SEP of high amplitude (HASEP) in detecting asymptomatic relatives of JME patients, we evaluated the EEG findings and SEP in asymptomatic siblings of JME patients.

Methods
We analysed the EEG and SEP findings of 37 JME patients and 48 asymptomatic siblings of 27 patients and compared the results with healthy volunteers.

Results
Of 13 asymptomatic siblings with EEG abnormalities (27.1%), 5 had 4‐6 Hz spike/polyspike and wave paroxysms (10.4%), 5 had slow wave paroxysms (10.4%), and the remaining 3 patients exhibited focal spike and wave activity during hyperventilation (6.25%). No significant difference was found between JME patients, asymptomatic siblings and control groups with respect to N20 latencies. N20/P25 amplitudes were significantly higher in both JME group and asymptomatic siblings than those of control cases. HASEP were observed in 8 out of 37 JME patients (21.6%), 10 out of 48 healthy siblings (20.8%) and none of the control cases. The consanguinity rate was higher in parents of patients who had at least one asymptomatic sibling with EEG and/or SEP abnormalities (68.7%) than in those of patients who had siblings with no EEG and SEP abnormalities (9.9%). We suggest that the high rate of SEP and EEG changes among offspring of consanguineous marriages might reflect the genetic heterogeneity of the disease.
Paroxysmal non‐kinesigenic dyskinesia: pathophysiological investigations
Authors: Lombroso Cesare T. , Fischman Alan 
Published: March 2024

ABSTRACT

The paroxysmal dyskinesias constitute a heterogeneous group of disorders whose pathophysiologies and nosologies are still generally unknown. In a boy with severe, paroxysmal non‐kinesigenic dyskinesia (PNKD), an invasive video‐electrographic study demonstrated that his PNKD did not originate from the cortex, while a discharge was registered from the caudate nuclei. An
18
FDG PET scan failed to show metabolic anomalies. A
18
FDOPA and a
11
C raclopride PET scans revealed a marked reduction in the density of presynaptic dopa decarboxylase activity in the striatum, together with an increased density of postsynaptic dopamine D
2
receptors. These findings may suggest a chronic upregulation of postsynaptic dopa receptors, either because of an increase in their numbers or changes in their affinity. It remains unknown if these are secondary to reduced dopamine synthesis or altered release, or if the changes in striatal dopamine receptor binding are a primary or a compensatory mechanism.
Gelastic seizures: video‐EEG and scintigraphic analysis of a case with a frontal focus; review of the literature and pathophysiological hypotheses
Authors: Biraben A. , Sartori E. , Taussig D. , Bernard A.M. , Scarabin J.M. 
Published: March 2024

ABSTRACT
We report scalp EEG and SPECT findings in a young patient who experienced gelastic seizures; clinical, EEG and scintigraphic data strongly suggested a frontal focus in a context of cryptogenic epilepsy. Few cases of gelastic seizures originating in the frontal lobe have been reported in the literature, most of them involving a diencephalic hamartoma or a temporal focus although, no clinical pattern has been found to be specific for each of these three anatomical regions. The ictal laughter is of variable nature, unmotivated or associated with feelings of mirth, forced or natural, except in the case of a frontal focus where the laughter seems consistently described as forced and unmotivated. However, mirth and laughter are two dissociable clinical elements; their genesis probably involves distinct mechanisms. Anatomical considerations lead to several hypotheses concerning laughter generation: it could be a simple reactional behavior in response to a modified cognitive process, an automatic behavior or a forced action. In a few cases with a temporal focus, laughter seems directly related to a disorganization of the associative temporal cortex and may be considered as a reactional behavior. In cases with frontal focus, anterior cingulate and orbital structures would be particularly implicated in laugher genesis, although with possible different pathophysiological routes: in the first case by disconnection within the premotor mesial system or by an imbalance between premotor mesial and premotor lateral systems, and in the second case by activation of a previously conditioned orbital region.
Rotatory seizures in a patient with tuberous sclerosis
Authors: Ramelli Gian Paolo , Donati Filippo , Kollar Mihaly , Remonda Luca , Vassella Franco 
Published: March 2024

ABSTRACT
We present an 11‐year‐old girl with tuberous sclerosis who developed seizures characterized by circling behavior.
Rotatory seizures are uncommon and occur mainly secondary to a focal pathology. Our patient had a right temporal epileptic focus, confirmed by magnetic resonance imaging (MRI) to be a subcortical lesion in the right temporal region.
This case is probably the first reported case of tuberous sclerosis associated with rotatory seizures with an ictal EEG.
Piracetam and levetiracetam: close structural similarities but different pharmacological and clinical profiles
Authors: Genton Pierre , Van Vleymen Betty 
Published: March 2024

ABSTRACT
Piracetam (PIR) and levetiracetam (LEV), an S‐enantiomer, are pyrrolidone derivatives that share similar chemical structures but have distinct pharmacological profiles and consequently different clinical uses. Although the mode of action of neither drug has been fully elucidated, they do not interact with inhibitory or excitatory neurotransmission or alter membrane excitability. A brain‐specific stereoselective binding site has been identified for which LEV and other S‐enantiomers, but not PIR, have high affinity. In preclinical studies, PIR significantly improves learning and memory; in contrast, LEV has less effect but is much more active in preventing seizures. Both drugs have a high therapeutic index and are well tolerated. PIR, a nootropic drug, is used in the therapy of age‐related cognitive disturbances and poststroke aphasia. Clinical experience has also shown that at high doses it is effective against cortical myoclonus. LEV is an antiepileptic drug. Clinical trials have confirmed its efficacy in partial seizures and preliminary findings suggest that it is also effective in generalized seizures and myoclonus.
The role of gamma knife surgery in the treatment of severe epilepsies
Authors: Régis Jean , Bartolomei Fabrice , Hayashi Motohiro , Roberts David , Chauvel Patrick , Peragut Jean‐Claude 
Published: March 2024

ABSTRACT
There is a strong rationale for investigation of the role of gamma knife radiosurgery in the treatment of medically intractable epilepsy. To explore this potential application, the current outcome and morbidity associated with established microsurgical treatment, as well as the associated advantages and disadvantages of open surgery, are reviewed. The preliminary evidence in support of radiosurgical treatment and the recent experience with gamma knife treatment for epilepsy associated with mesial temporal sclerosis, cavernous angioma, and hypothalamic hamartoma or other lesions are presented. The strengths and limitations of this application are discussed, and the challenges facing both microsurgical and radiosurgical approaches are considered. Gamma knife surgery can be a main approach among others in the armamentarium of epilepsy surgery. Although the benefits of comfort and reduced invasivity can be clearly perceived, larger series and long‐term follow up are still required in order to evaluate the future of this particular surgical approach.
Infantile spasms and Menkes disease
Authors: Sfaello Ignacio , Castelnau Pierre , Blanc Nathalie , Ogier Hélène , Evrard Philippe , Arzimanoglou Alexis 
Published: March 2024

ABSTRACT
Epileptic seizures are a common feature in Menkes disease, an X‐linked genetic disorder of copper metabolism. Details of type of seizures are rarely reported. We report the evolution of infantile spasms in two patients with Menkes disease and the relation with subcutaneous administration of copperhistidine.
Pathogenesis of Lennox‐Gastaut syndrome: Considerations and hypotheses
Authors: Blume Warren T. 
Published: March 2024

ABSTRACT
No other epilepsy more substantially combines cryptogenicity and intractability than does Lennox‐Gastaut Syndrome. Although antecedent neurological conditions have preceeded LGS in some patients, others with similar ills fail to develop this syndrome, and precise charting of the pathway between any presumed aetiology and the epilepsy has eluded researchers. Despite these frustrations, LGS has elicited a host of publications over the years, possibly because it combines features of many other epileptic disorders and thereby occupies a crossroads position among them. Lacking a comprehensive experimental model of LGS, this article combines relevant data from several clinical and basic sources in order to formulate a concept of pathogenesis. Data are presented to suggest that the occurrence of factors enhancing excitability during a vulnerable period of cortical and thalamic development may permanently imprint a bilateral, diffuse epileptogenic system upon the mammalian brain.
Benign paroxysmal tonic upgaze of childhood with ataxia
Authors: Lispi Maria Luisa , Vigevano Federico 
Published: March 2024

ABSTRACT
Paroxysmal tonic upgaze deviation (PTU) is a rare neuro‐ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements, frequent association with mild ataxia or clumsiness at time of illness, normal metabolic, electroencephalographic and neuroradiological findings. Symptoms are frequently relieved by sleep and can be exacerbated by fatigue or illness. Although PTU generally tends to disappear spontaneously within a few months or years, subsequent case reports have demonstrated the heterogeneous nature of the syndrome with respect to outcome. To date, the pathogenesis of the condition is still unknown. We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.
Asymmetric tonic seizures with bilateral parietal lesions resembling frontal lobe epilepsy
Authors: Ikeda Akio , Matsumoto Riki , Ohara Shinji , Kunieda Takeharu , Shirakashi Yoshitomo , Kaji Ryuji , Fukuyama Hidenao , Shibasaki Hiroshi 
Published: March 2024

ABSTRACT
We performed long‐term video/ EEG monitoring and a single photon emission computed tomographic (SPECT) study to clarify generating mechanism of bilateral tonic motor seizures resembling seizures generated by the supplementary motor area (SMA), in patients with bilateral parietal lesions. We describe 2 patients (age 24 and 32 years), with bilateral parietal lesions. Clinically, seizures were preceded by lightning sensation in the body, followed by asymmetric tonic posturing of both hands and thrashing movements of the feet, lasting for less than 1 min.
Ictal rhythmic (7‐15 Hz) activity at the vertex was observed on the EEG in 1 patient. Interictal SPECT in 2 patients showed decreased blood flow in both parietal areas, consistent with bilateral parietal abnormalities on T2‐ and T1‐weighted MRIs. Ictal SPECT in 1 patient showed increased blood flow in the right parietal and frontopolar areas.
The present 2 patients had clinically asymmetric tonic seizures, most likely resulting from spreading of the ictal activity from the parietal lesions via the superior longitudinal fasciculus to the SMA. Bilateral, homologous lesions in the parietal area might cause disinhibition on the unilateral epileptogenic side.
Perioral myoclonia with absence seizures: a rare epileptic syndrome
Authors: Bilgiç Başar , Baykan Betül , Gürses Candan , Gökyiğit Ayşen 
Published: March 2024

ABSTRACT
We present the clinical and video‐EEG data on an epileptic boy whose absence seizures with marked perioral movements had started at the age of 1.5 years. From age 12 years, he experienced frequent episodes of typical absence status epilepticus (ASE) lasting 1‐2 hours with marked perioral myoclonia and moderate confusion. Initial therapy with carbamazepine was substituted by valproate because of worsening of the absence seizures. At the age of 17, the patient was admitted to our clinic with his usual, but long lasting ASE attack, accompanied by 2 generalized tonic‐clonic convulsions. ASE was confirmed with the EEG which showed continuous 3 Hz spike and wave paroxysms with occasional normal intervals of 1‐5 seconds. IV injection of clonazepam improved the clinical and EEG findings immediately. Video‐ EEG examination performed after a few weeks demonstrated typical absence seizures with perioral myoclonia. Based on the characteristics of seizure semiology, other clinical data and EEG findings, the patient was diagnosed as having the syndrome of “perioral myoclonia with absence seizures” described by Panayiotopoulos.
A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video‐polygraphic study
Authors: Capovilla Giuseppe , Rubboli Guido , Beccaria Francesca , Lorenzetti Maria Elena , Montagnini Alessandra , Resi Cristina , Gardella Elena , Gambardella Antonio , Romeo Antonino , Tassinari Carlo Alberto 
Published: March 2024

ABSTRACT
We investigated the electroclinical features of 12 patients with childhood absence epilepsy (CAE), presenting with typical absence seizures associated with myoclonic manifestations of the face or neck. All patients underwent repeated and prolonged split‐screen video‐polygraphic EEG recordings. The polygraphic recordings and clinical correlations of the absence seizures were analysed. All patients presented with multi‐quotidian, typical absence seizures. During the absences, the patients could show mild, rhythmic, myoclonic jerks involving facial areas (eyebrows, nostrils, perioral region, chin) or neck muscles (sternocleidomastoideus), with the same frequency as the spike‐wave complexes. Polygraphic tracings demonstrated that the myoclonias were correlated to the spike component. Clinically, all patients showed a benign course, with complete seizure control under antiepileptic treatment. In the follow‐up, 7 patients withdrew from treatment without relapse.

We conclude that all our patients showed an electroclinical picture consistent with CAE. The occurrence of myoclonic manifestations of the face or neck associated with the absences did not influence the benign course of their disease. The electroclinical features observed in our group of patients differentiates our cases both from epilepsy with myoclonic absences and from absences with perioral myoclonia (
with Video
).
Accessibility of spoken, written, and sign language in Landau‐Kleffner syndrome: a linguistic and functional MRI study
Authors: Sieratzki Jechil S. , Calvert Gemma A. , Brammer Michael , David Anthony , Woll Bencie 
Published: March 2024

ABSTRACTLandau‐Kleffner syndrome (LKS) is an acquired aphasia which begins in childhood and is thought to arise from an epileptic disorder within the auditory speech cortex. Although the epilepsy usually subsides at puberty, a severe communication impairment often persists. Here we report on a detailed study of a 26‐year old, left‐handed male, with onset of LKS at age 5 years, who is aphasic for English but who learned British Sign Language (BSL) at age 13. We have investigated his skills in different language modalities, recorded EEGs during wakefulness, sleep, and under conditions of auditory stimulation, measured brain stem auditory‐evoked potentials (BAEP), and performed functional MRI (fMRI) during a range of linguistic tasks. Our investigation demonstrated severe restrictions in comprehension and production of spoken English as well as lip‐reading, while reading was comparatively less impaired. BSL was by far the most efficient mode of communication. All EEG recordings were normal, while BAEP showed minor abnormalities. fMRI revealed: 1) powerful and extensive bilateral (R > L) activation of auditory cortices in response to heard speech, much stronger than when listening to music; 2) very little response to silent lip‐reading; 3) strong activation in the temporo‐parieto‐occipital association cortex, exclusively in the right hemisphere (RH), when viewing BSL signs. Analysis of these findings provides novel insights into the disturbance of the auditory speech cortex which underlies LKS and its diagnostic evaluation by fMRI, and underpins a strategy of restoring communication abilities in LKS through a natural sign language of the deaf (with Video).