bluuebunny/crossref_metadata_2025 huggingface dataset:
Eating‐induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies
Authors: de Palma Luca , Boniver Clementina , Cassina Matteo , Toldo Irene , Nosadini Margherita , Clementi Maurizio , Sartori Stefano
Published: August 2019

Duplication of MECP2 causes a recently described X‐linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal EEG features have been increasingly described, whereas ictal electroclinical features remain poorly defined. We report the case of a boy carrying a maternally‐inherited MECP2 duplication and describe the video‐EEG sequence of a cluster of eating‐induced spasms, the only epileptic manifestation of the patient. This report expands our knowledge of the epileptic phenotype of MECP2 duplication syndrome and may contribute to a better definition and comprehension of the electroclinical spectrum of patients affected by this disease. It also supports the hypothesis that in some genetic epilepsies, the electro‐clinical profile can correlate with the dysfunction of limited cortical regions despite the presence of a genetic mutation over the entire brain. [Published with video sequences]
Clinico‐pathological investigations of Rasmussen encephalitis suggest multifocal disease progression and associated focal cortical dysplasia
Authors: Wang Dandan , Blümcke Ingmar , Gui Qiuping , Zhou Wenjing , Zuo Huancong , Lin Jiuluan , Luo Yang
Published: August 2019

Rasmussen encephalitis is a devastating neurological disorder characterised by seizures, brain inflammation, and progressive hemispheric atrophy. The objective of the current study was to systematically characterise patterns of structural lesions in children with Rasmussen encephalitis, referred for modified anatomical hemispherectomy at the Tsinghua University Epilepsy Center in Beijing. Seven consecutive patients were investigated with a mean age at operation of 4.5 years, who suffered from medically intractable seizures for a mean of 1.6 years. Foci of abnormally increased T2 signal intensity were observed in all patients. With the exception of one child, all patients presented with progressive unilateral cerebral atrophy. FDG‐PET imaging revealed extensive regions of hypometabolism within the affected cerebral hemisphere in 3 of 4 patients. Diagnosis of Rasmussen encephalitis was confirmed histologically, demonstrating CD68 positive microglial nodules, as well as CD3 and CD8 positive T lymphocytes invading the cerebral parenchyma. An intriguing observation was the heterogenous distribution of patterns of lesions throughout the affected hemisphere, suggesting multifocal manifestation and distinct sequences of disease progression, from discrete foci of inflammatory infiltrates (stage 1) to extensive cortical destruction (stage 4). Atypical hippocampal sclerosis (HS), with neuronal cell loss affecting most prominently the CA4 region (HS type 3 or end folium sclerosis), was evident in 5 of 7 cases. Four hippocampi also showed chronic inflammation. In addition, we observed associated focal cortical dysplasia (FCD; ILAE type IIId) in 4 of 7 children, supporting the concept of acquired and postmigratory FCD pathomechanisms. Postsurgical seizure freedom was achieved in all children with a mean follow‐up period of 2.7 years and continuous antiepileptic medication.
Syncope with atypical trunk convulsions in a patient with malignant arrhythmia
Authors: Doležalová Irena , Brázdil Milan , Rektor Ivan , Tyrlíková Ivana , Kuba Robert
Published: August 2019

Syncope is a condition often misdiagnosed as epilepsy. Syncope caused by cardiac disturbance is a life‐threatening condition and accurate diagnosis is crucial for patient outcome. We present a case study of a 71‐year‐old woman who was referred to our epilepsy centre with a diagnosis of refractory epilepsy. We diagnosed convulsive syncope caused by malignant cardiac arrhythmia based on the presence of cardiac asystole lasting for 20‐30 seconds, which was caused by sick sinus syndrome combined with third‐degree atrioventricular block. The most prominent feature of this syncope was atypical trunk (abdominal or thoracoabdominal) convulsions, which were accompanied by other motor signs (head and eye deviation and brief jerks of the extremities). In the periods between attacks, all investigations, including standard 12‐lead ECG and 24‐hour ECG monitoring, were normal. This case study highlights the challenge in differential diagnosis of sudden loss of consciousness. [Published with video sequences]
Antiepileptic treatment for anti‐NMDA receptor encephalitis: the need for video‐EEG monitoring
Authors: Dericioglu Nese , Vural Atay , Acar Pinar , Agayeva Nergiz , Ismailova Vefa , Kurne Asli , Saka Esen , Arsava Ethem Murat , Topcuoglu Mehmet Akif
Published: August 2019

Anti‐NMDA receptor encephalitis is a severe disorder characterised clinically by seizures, autonomic instability, and severe disturbances of memory, behaviour, and cognition. Due to the severity of symptoms, many patients are admitted to the intensive care unit. For some patients, the presence of various movement disorders and abnormal autonomic signs, as well as a history of seizures, lead to a false impression of status epilepticus, which is reported in 6% of the cases. Here, we present two young female patients, one of whom had ovarian teratoma. Both patients were referred to our neurological intensive care unit with a diagnosis of status epilepticus. However, prolonged video‐EEG findings were compatible with encephalopathy. We avoided aggressive treatment with intravenous anaesthetics and both patients recovered after immunotherapy, one of whom received surgery. Physicians should be cautious in interpreting abnormal movements and autonomic signs in such patients and video‐EEG monitoring is advised when status epilepticus is suspected. [Published with video sequences]
Reflex myoclonic epilepsy in infancy: a critical review
Authors: Verrotti Alberto , Matricardi Sara , Pavone Piero , Marino Raffaella , Curatolo Paolo
Published: August 2019

Benign myoclonic epilepsy in infancy, classified among the generalised idiopathic epilepsies, is characterised by the occurrence of myoclonic seizures in the first three years of life in otherwise normal infants. Some authors have described cases of myoclonic seizures as a reflex response to sudden unexpected tactile or acoustic stimuli and this clinical entity has been proposed as a separate nosographic syndrome, referred to as “reflex myoclonic epilepsy in infancy” (RMEI). We reviewed all published articles and case reports on RMEI in order to clarify clinical and electroencephalographic findings, with particular attention to outcome and treatment. RMEI appears to be a benign variant of idiopathic myoclonic epilepsy in infancy with specific features that occur in neurologically and developmentally normal children. This rare clinical entity is often under‐described and under‐diagnosed, and for this reason should be brought to the attention of paediatricians in order to avoid extensive investigations and reassure parents of the lack of long‐term complications.
Adherence to treatment and influencing factors in a sample of Chinese epilepsy patients
Authors: Liu Jianming , Liu Zhiliang , Ding Hu , Yang Xiaohong
Published: August 2019

Aim

To assess adherence to antiepileptic drugs (AEDs) and factors associated with non‐adherence in a sample of Chinese patients with epilepsy.

Methods

A cross‐sectional descriptive study was carried out on patients who had no change in treatment regimen over the last six months. Data on adherence to medication and related factors for each patient were gathered using a questionnaire.

Results

Of a total of 368 patients studied, 48.1% of patients were non‐adherent with regards to AEDs. There were no demographic differences (based on gender, age, seizure type, and rural or urban location) between adherent and non‐adherent patients. Adherence was positively and significantly correlated with duration of illness (p=0.007). The primary reason for non‐adherence was forgetfulness or not having medication on hand (69.6%), followed by a negative attitude (12.8%), a bad patient‐prescriber relationship (9.5%), side effects (5.4%), inability to buy drugs (1.9%), and other reasons (0.8%).

Conclusion

The non‐adherence of epilepsy patients is common in China. Targeted management programs and communication strategies are necessary to improve adherence to AED treatments in patients with epilepsy and avoid the clinical consequences of poor adherence.
Anorgasmia during pregabalin add‐on therapy for partial seizures
Authors: Calabrò Rocco Salvatore , De Luca Rosaria , Pollicino Patrizia , Bramanti Placido
Published: August 2019

Anorgasmia is the inability to reach orgasm during sexual intercourse, and, although it is believed that around 90% of anorgasmia problems are related to psychological issues, the use of serotoninergic drugs, including antidepressants and atypical antipsychotics, is a common cause of situational anorgasmia. Pregabalin is a new antiepileptic drug, structurally related to gabapentin, and commonly used as adjunctive therapy for partial epilepsy and treatment of neuropathic pain in adults. Herein, we describe three men with epilepsy, who experienced severe anorgasmia after pregabalin add‐on treatment.
Newly‐diagnosed epileptic seizures in three populations: Geneva (EPIGEN), Martinique (EPIMART), and the Reunion Island (EPIREUN)
Authors: Bhalla Devender , Preux Pierre‐Marie , Mignard Claude , Smadja Didier , Tchalla Achille Edem , Marin Benoît , Jallon Pierre
Published: August 2019

Aim

The objective was to analyse and discuss data from three studies of newly‐diagnosed epileptic seizures (provoked and unprovoked) conducted in Geneva, Martinique, and the Reunion Island, in which the same methodology was used.

Methods

We extracted data from three studies in which the incidence of seizures was estimated and aetiologies identified. Data was extracted and analysed using STATA. Group comparison was performed firstly for each study as a single group, and secondly by considering Martinique and the Reunion Island as an overseas group, in comparison with Geneva, considered as a mainland group. Uncorrected χ2was used and statistical significance (two‐sided, p=0.05) was determined for each aetiology per cohort.

Results

The incidence of newly‐diagnosed epileptic seizures per100,000 was 71.0, 80.6, and 100.4 in Geneva, Martinique, and the Reunion Island, respectively. A bimodal distribution and predominance of generalised seizures was noted. The male to female ratio was higher in Martinique (~2.0) than other populations (~1.5). Status epilepticus was noted in Geneva and more so in the Reunion Island. The incidence of provoked seizures per 100,000 was 25.2,16.4, and 17.7, and for unprovoked seizures was 45.6,64.1, and 81.2 in Geneva, Martinique, and the Reunion Island, respectively. There was a greater risk of provoked seizures in Geneva relative to the overseas group, which was due to tumours, use of toxic substances, and drug abuse. The risk of unprovoked seizures in Geneva was due to trauma and infections. In Martinique, alcoholism and HIV were foremost factors for provoked and unprovoked seizures, and stroke was an important aetiology in both Martinique (provoked seizures) and the Reunion Island (unprovoked seizures).

Conclusion

The risk of provoked seizures was greatest in Geneva and risk of unprovoked seizures was greatest in the Reunion Island. Toxic substances, alcohol, infection, and trauma constituted major factors for epileptic seizures in Geneva, while alcoholism, HIV, and stroke were major factors in the overseas group. Relative eradication of tropical infections has paved a way for the emergence of non‐communicable aetiologies (stroke, alcoholism). Males from Martinique demonstrated the greatest risk of epileptic seizures, signifying the importance of alcoholism, HIV, etc. Three steps should follow: follow‐up studies (mortality), strong mechanisms for prevention (or control) of risk factors, guidelines on whether to treat or not.
Torsional nystagmus in hypothalamic hamartoma
Authors: Shaikh Aasef G.
Published: August 2019

Torsional nystagmus was noted in a patient with hypothalamic hamartoma. Magnetic resonance imaging revealed an exophytic hypothalamic mass extending into the pre‐pontine cistern and abutting ventral mesencephalon. The quickphase of the torsional nystagmus was directed towards the left side, ipsilateral to the side of compression by the hamartoma. Ipsi‐lesionally directed pure torsional nystagmus in this case is attributed to the compressive lesion of ocular motor structures responsible for the neural integration of torsional and vertical eye movements, the interstitial nucleus of Cajal. [Published with video sequences]
Usefulness of bilateral bispectral index (BIS) monitoring in a comatose patient with myoclonic status epilepticus secondary to cefepime
Authors: Fernández‐Torre José L , Hernández‐Hernández Miguel A , Rodríguez‐Borregán Juan C , González‐Quintanilla Vicente
Published: August 2019

Background. Status epilepticus, particularly non‐convulsive status epilepticus (NCSE), is a frequent complication in patients with altered renal function receiving treatment with intravenous cefepime. To the best of our knowledge, we report the first case, illustrated by video‐EEG, of a critically ill patient receiving treatment with cefepime who developed an episode of confirmed symptomatic myoclonic status epilepticus (MSE). Methods. Case report and video‐EEG. Results. A 60‐year‐old man, who had received a liver transplant due to alcoholic cirrhosis one year ago, was admitted to our intensive care unit due to septic shock. Computed tomography revealed a prostatic abscess as cause of his sepsis. On Day 27, a respiratory infection due to Pseudomona aeruginosa was diagnosed, and treatment with intravenous cefepime (2 g/8 hours) was initiated. On Day 32, his mental status deteriorated and he developed inattention, a reduced level of consciousness, and multifocal and generalised continuous myoclonic jerks. A video‐EEG study was compatible with the diagnosis of symptomatic MSE. On Day 35, cefepime was stopped and general anaesthesia with midazolam was started in order to achieve a faster clinical improvement. We used the BIS‐Vista™ monitor to guide general anaesthesia and detect potential episodes of NCSE. On Day 40, an EEG confirmed the existence of moderate diffuse encephalopathy. Finally, the patient died as a consequence of severe heart failure. Conclusions. Cefepime may be a cause of MSE in non‐anoxic comatose patients. Clinicians should be aware of this possibility when evaluating comatose patients on cephalosporin therapy in order to establish a correct diagnostic approach and accurate prognosis. [Published with video sequences]
Cortical network dysfunction in musicogenic epilepsy reflecting the role of snowballing emotional processes in seizure generation: an fMRI‐EEG study
Authors: Diekmann Volker , Hoppner Anselm Cornelius
Published: August 2019

Aim. Patients suffering from musicogenic epilepsy have focal seizures triggered by auditory stimuli. In some of these patients, the emotions associated with the music appear to play a role in the process triggering the seizure, however, the significance of these emotions and the brain regions involved are unclear. In order to shed some light on this, we conducted fMRI and EEG in a case of musicogenic epilepsy.Methods. In a 32‐year‐old male patient with seizures induced by a specific piece of Russian music, we performed video‐EEG monitoring as well as simultaneous fMRI and EEG registration.Results. Video‐EEG monitoring revealed a left temporo‐frontal epileptogenic focus. During fMRI‐EEG co‐registration, BOLD signal alterations were not only found in the epileptogenic focus but also in areas known for their role in the processing of emotions. Prior to a seizure in some of these areas, BOLD contrasts exponentially increased or decreased.Conclusion. These results suggest that in our case, dysfunction of the regulation processes of the musically‐induced emotions, and not the musical stimulus itself, led to the seizures.
A simple febrile seizure with focal onset
Authors: Hamelin Sophie , Vercueil Laurent
Published: August 2019

Simple febrile seizures last for less than 10 minutes and resolve spontaneously, in the context of a febrile illness, without focal features or recurrence during the subsequent 24 hours. We report the case of fortuitous video‐EEG recording of a FS, clinically classified as “simple”, which demonstrated a focal, temporal onset. This clinical finding is in agreement with animal model studies demonstrating focal onset. [Published with video sequences]
Continuous spikes and waves during slow sleep in a child with karyotype 47, XYY
Authors: Cianci Vittoria , Ferlazzo Edoardo , De Martino Giuseppe , Vinci Angela , Gasparini Sara , Tripodi Giovanbattista Gaspare , Aguglia Umberto
Published: August 2019

The XYY syndrome is a sex chromosome aneuploidy occurring in one of 1,000 live male births. Only few data exist regarding the correlation between this syndrome and epilepsy. An EEG pattern suggestive of benign focal epilepsy with centro‐temporal spikes has recently been described in four XYY patients. We report the first patient with XYY trisomy, rolandic spikes, and atypical evolution with continuous spikes and waves during slow sleep (CSWSS). The present report suggests that the association between an EEG pattern similar to that of BECTS and 47, XYY karyotype may not be coincidental. Moreover, we show that an atypical evolution with CSWSS may occur in this chromosomal disorder.
Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
Authors: Hmami Fouzia , Wood Sian‐Elin , Chaouki Sana , Oulmaati Abdellah , Hida Mustapha , Rees Mark I. , Chung Seo‐Kyung , Bouharrou Abdelhak
Published: August 2019

Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic‐clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1‐mediated hyperekplexia. [Published with video sequences]
Persistent frequent subclinical seizures and memory impairment after clinical remission in smoldering limbic encephalitis
Authors: Kanazawa Kyoko , Matsumoto Riki , Shimotake Akihiro , Kinoshita Masako , Otsuka Akiko , Watanabe Osamu , Tanaka Keiko , Takahashi Ryosuke , Ikeda Akio
Published: August 2019

Aim. To delineate a possible correlation between clinical course and EEG abnormalities in non‐infectious “smoldering” limbic encephalitis. Methods. Long‐term clinical data, including video‐EEG monitoring records, were analysed in two patients. Results. The two patients were positive for anti‐voltage‐gated potassium channel complex antibody and unspecified antineuronal antibody, respectively. The latter patient had small cell lung carcinoma. Both patients had memory impairment and clinical seizures. EEG showed frequent subclinical seizure patterns in the bilateral temporal regions. Subclinical seizure patterns and memory impairment persisted over one to two years after clinical seizure remission. Therapy (prednisolone and chemoradiation in the two patients, respectively) resulted in decreased occurrence of subclinical seizure patterns and memory improvement. Conclusions. EEG seizure patterns may persist years after clinical seizure remission in “smoldering” limbic encephalitis and lead to memory impairment.
PET‐positive extralimbic presentation of anti‐glutamic acid decarboxylase antibody‐associated encephalitis
Authors: Kojima Gotaro , Inaba Michiko , Bruno Michiko K.
Published: August 2019

Anti‐glutamic acid decarboxylase (GAD) antibody‐associated autoimmune encephalitis has been reported mostly as limbic encephalitis. Only few cases with extralimbic involvement are reported with limited investigation. Here, we report an extensive investigation with MRI, PET, and pathological examination. A 66‐year‐old Japanese female with a history of hypothyroidism, colon cancer, pheochromocytoma, and thymoma‐associated myasthenia gravis presented with generalised tonic‐clonic seizures. MRI showed multiple hyperintense lesions and PET showed hypermetabolic lesions in the brain. Biopsy showed non‐specific gliosis, microglial proliferation, and perivascular lymphohistiocytic infiltrates. Various neuronal antibodies were negative, except for anti‐GAD antibody. Anti‐GAD antibody‐associated encephalitis is an increasingly recognised CNS disease. Pathophysiology of this encephalitis is unclear. While PET showed hypermetabolic lesions, the biopsy showed non‐specific changes. The treatments may include immunosuppressants, IVIg, and plasma exchange. One should consider to measure this antibody, in addition to others, when autoimmune encephalitis is suspected [Published with video sequences].
Osteoporosis is associated with antiepileptic drugs: a population‐based study
Authors: Wu Fang‐Jen , Sheu Shiow‐Yunn , Lin Herng‐Ching
Published: August 2019

Controversy remains regarding the risk of bone abnormalities due to enzyme‐inducing antiepileptic drugs (EIAEDs) and non‐enzyme‐inducing antiepileptic drugs (NEIAEDs). This case‐control study aimed to investigate the possible association between osteoporosis and epilepsy disease and AEDs therapy using a population‐based dataset in Taiwan. We first identified 48,102 cases, ≥18 years of age, who received a first‐time diagnosis of osteoporosis, and then randomly selected 144,306 controls. We used conditional logistic regression analyses to compute the odds ratio (OR) and corresponding 95% confidence interval (CI) to compare a previous diagnosis of epilepsy between cases and controls. We found that of the 192,408 sampled subjects, epilepsy was found in 117 (0.24%) cases and 240 (0.17%) controls (p<0.001). Cases were found to be more likely to have previously been diagnosed with epilepsy than controls (OR: 1.41, 95% CI: 1.11∼1.78,p<0.01), after taking confounders into consideration. Furthermore, we found that, compared to controls, the adjusted OR of cases in which enzyme‐inducing AEDs had been prescribed was 2.06 (95% CI: 1.43∼2.95). A higher proportion of cases with prescribed NEIAED was also found (OR: 2.09, 95% CI: 1.49∼2.92) compared to controls. This study demonstrates that patients with osteoporosis were more likely to have epilepsy and receive EIAED or NEIAED treatment. For patients with epilepsy who take AEDs, attention should be paid to the adverse effects of osteoporosis.
Utility of electrocorticography in the surgical treatment of cavernomas presenting with pharmacoresistant epilepsy
Authors: San‐Juan Daniel , Díaz‐Nuñez Iván Cesár , Ojeda‐Baldéz Mónica , Barajas‐Juárez Víctor Armando , González‐Hernández Iliana , Alonso‐Vanegas Mario , Anschel David J. , Delgado de la Mora Jesús , Davila‐Avila Ned Merari , Romero‐Gameros Carlos Alfonso , Vázquez‐Gregorio Rafael , Hernández‐Ruíz Axel
Published: August 2019

Aim. To describe the general aspects of cavernomas and epilepsy and review the available literature on the utility of electrocorticography (ECoG) in cerebral cavernoma surgery.Methods. We searched studies in PubMed, MedLine, Scopus, Web of Science, and Google Scholar (from January 1969 to December 2013) using the keywords “electrocorticography” or “ECoG” or “prognosis” or “outcome” and “cavernomas”. Original articles that reported utility of ECoG in epilepsy surgery were included. Four review authors independently selected the studies, extracted data, and assessed the methodological quality of the studies using the recommendations of the Cochrane Handbook for Systematic Reviews of Interventions, PRISMA guidelines, and Jadad Scale. A meta‐analysis was not possible due to methodological, clinical, and statistical heterogeneity of included studies. We analysed six articles with a total of 219 patients.Results. The most common surgical approach was lesionectomy using ECoG in the temporal lobe with Engel I outcome range from 72.7 to 100%.Conclusions. Small controlled studies suggest that ECoG‐guided resection offers the best functional results in seizure control for subjects undergoing cavernoma surgery, especially in the temporal lobe.
Obesity and its association with generalised epilepsy, idiopathic syndrome, and family history of epilepsy
Authors: Ladino Lady D , Hernández‐Ronquillo Lizbeth , Téllez‐Zenteno José F.
Published: August 2019

Aim. Previous studies support the concept that obesity is a common comorbid condition in patients with epilepsy (PWE). In this study, we present the body mass index (BMI) and data from a survey to assess physical activity in a sample of PWE from an epilepsy clinic.Methods. Between June of 2011 and January of 2013, 100 PWE from an adult epilepsy clinic were included. We obtained BMI, waist circumference, and information regarding physical activity using a standardised questionnaire. Clinical, demographic, electrographic, and imaging parameters were collected from charts.Results. Mean age of patients was 40±14 (18–77) years. The BMI distribution was as follows: 2 patients (2%) underweight, 26 (26%) normal weight, 34 (34%) overweight, 25 (25%) obese, and 13 (13%) with morbid obesity. In our study, obesity was defined as having a BMI ≥30. We found 38 (38%) patients in this range. There was no difference in the rate of drug‐resistant epilepsy between obese and non‐obese patients (55vs. 55%;p=0.05). Leisure time habit was reported in 82% of obese patients and 79% of patients without obesity. Overall, the most frequent activity was walking (70%). Factors associated with obesity were generalised epilepsy (OR: 2.7, 1.1–6.6;p=0.012), idiopathic syndrome (OR: 2.7, 1.04–7;p=0.018), and family history of epilepsy (OR: 6.1, 1.5–24.2;p=0.002).Conclusion. Our study suggests an association between obesity, idiopathic generalised epilepsy, and family history of epilepsy. Our study shows that PWE are physically active and there is no clear relation between exercise and obesity. We could not identify any association between drug‐resistant epilepsy and obesity. Absence of direct comparison with a control non‐epileptic population; a cross‐sectional design not allowing evaluation of a causal association among variables; and reliance on self‐reported physical activity are to be considered as limitations of the present study.
What is more harmful, seizures or epileptic EEG abnormalities? Is there any clinical data?
Authors: Holmes Gregory L.
Published: August 2019

Cognitive impairment is a common and often devastating co‐morbidity of childhood epilepsy. While the aetiology of the epilepsy is a critical determinant of cognitive outcome, there is considerable evidence from both rodent and human studies that indicate that seizures and interictal epileptiform abnormalities can contribute to cognitive impairment. A critical feature of childhood epilepsy is that the seizures and epileptiform activity occur in a brain with developing, plastic neuronal circuits. The consequences of seizures and interictal epileptiform activity in the developing brain differ from similar paroxysmal events occurring in the relatively fixed circuitry of the mature brain. In animals, it is possible to study interictal spikes independently from seizures, and it has been demonstrated that interictal spikes are as detrimental as seizures during brain development. In the clinic, distinguishing the differences between interictal spikes and seizures is more difficult, since both typically occur together. However, both seizures and interictal spikes result in transient cognitive impairment. Recurrent seizures, particularly when frequent, can lead to cognitive regression. While the clinical data linking interictal spikes to persistent cognitive impairment is limited, interictal spikes occurring during the formation and stabilization of neuronal circuits likely contribute to aberrant connectivity. There is insufficient clinical literature to indicate whether interictal spikes are more detrimental than seizures during brain development.
Syndromes at risk of status epilepticus in children: genetic and pathophysiological issues
Authors: Neubauer Bernd A. , Hahn Andreas
Published: August 2019

Status epilepticus (SE) is a medical emergency with increased risk of morbidity and mortality in all age groups. Recent research has identified a variety of new genes implicated in disorders with severe epilepsies as a prominent feature. Autoimmune mechanisms have also been recently recognised as a cause of epilepsies with SE as a characteristic symptom. Knowledge about the aetiology potentially underlying SE may help to guide diagnostics and eventually influence treatment decisions. This review recapitulates, in brief, the risk of SE in specific clinical settings, provides an overview of paediatric epilepsy syndromes more commonly, or by definition, associated with SE, and summarizes some recent research data on genetic defects and disease mechanisms implicated in the pathogenesis of epilepsies frequently accompanied by SE.
Prolonged seizures: what are the mechanisms that predispose or cease to be protective? A review of animal data
Authors: Köhling Rüdiger
Published: August 2019

There is no doubt that seizures change processes in neuronal networks which themselves impact on seizure susceptibility, and reports on such changes probably account for the majority of studies in experimental epileptology. As much as there is no doubt about this general fact, there is, to date, quite some disagreement on whether such changes are pro‐epileptic, anti‐epileptic, or both, and which are crucial and which are less so. While it is not possible to provide a general answer to this, this review attempts to categorise and highlight some of these findings, and relate them to specific ontogenetic or pathophysiological conditions. Data from studies of animal models (nearly exclusively) is presented, with a focus on two main aspects: ontogenetic particularities and pathophysiological conditions, supporting evidence of susceptibility and seizure termination mechanisms in adult animal models.
Epileptic encephalopathy with continuous spikes and waves in the occipito‐temporal region during slow‐wave sleep in two patients with acquired Kanji dysgraphia
Authors: Kuki Ichiro , Kawawaki Hisashi , Okazaki Shin , Ikeda Hiroko , Tomiwa Kiyotaka
Published: August 2019

We encountered two patients with acquired Kanji dysgraphia in whom continuous spikes and waves, dominant in the occipito‐temporal region, were recorded during slow‐wave sleep. Electrical status epileptics during sleep (ESES) was demonstrated on overnight electroencephalography, and dipoles clustered in and around the posterior inferior temporal cortex on magnetoencephalography. Functional neuroimaging suggested dysfunction in the left posterior temporal lobe, including the posterior inferior temporal cortex. The patients had normal intelligence with no problems in reading and writing Kana, as well as copying, reading aloud, and identifying Kanjis, but showed Kanji dysgraphia (morphological, phonemic, and semantic error) accompanied by impaired visual processing. ESES was resolved by sodium valproate, clonazepam, and acetazolamide in Patient 1, and by adrenocorticotropic hormone, sodium valproate, and clorazepate in Patient 2. The present cases had the unique cognitive dysfunction of Kanji dysgraphia, which is distinct from that of Landau‐Kleffner syndrome and continuous spikes and waves during slow‐wave sleep. However, the present cases also share common features with these two encephalopathies in terms of the clinical course, pathophysiology, neuroimaging, and response to steroids and antiepileptic drugs. In the context of the Japanese language, acquired Kanji dysgraphia may occur due to electrical dysfunction of left posterior inferior temporal cortex in patients with ESES.
Adult absence semiology misinterpreted as mesial temporal lobe epilepsy
Authors: Hurst Rebecca , Chiota‐McCollum Nicole , Tatum William
Published: August 2019

Correct diagnosis of seizure type and epilepsy syndrome is the foundation for appropriate antiepileptic drug selection. Inappropriate medication choices occur in the treatment of generalized epilepsy and may aggravate some seizure types, including absence seizures, potentially leading to pseudo‐drug resistance. Fortunately, a correct diagnosis of absence seizures is usually not difficult, though rarely demonstrates electroclinical overlap with focal seizures. EEG can be especially misleading when secondary bilateral synchronous discharges occur in patients with focal seizures. However, the semiology of focal seizures associated with mesial temporal lobe epilepsy has a characteristic and consistent semiology that is the mark of this common epilepsy syndrome in adulthood. We recently encountered a 53‐year‐old female with refractory seizures and a semiology strongly suggesting mesial temporal lobe epilepsy. Instead of focal seizures, prolonged absence seizures were validated by video‐EEG monitoring and she became seizure‐free after a change to broad‐spectrum antiepileptic drugs. This case further expands our understanding of the complexity of semiology in electroclinical classification and the spectrum that may occur in adult absence seizures. It serves to underscore the need for ictal EEG recordings and the importance of concordance with the clinical course during the pre‐surgical evaluation of patients with lesions and drug‐resistant epilepsy. [Published with video sequences]
Non‐convulsive status epilepticus in the elderly
Authors: Cheng Shuli
Published: August 2019

Altered mental state is a very common presentation in the elderly admitted to the emergency department. It has been determined that about 16% of patients aged 60 or older with confusion of unknown origin have non‐convulsive status epilepticus. The diagnosis of non‐convulsive status epilepticus is difficult in the elderly because possible aetiologies of confusion may present with the same clinical picture. Non‐convulsive status epilepticus in the elderly carries major morbidity and mortality, attributable primarily to aetiology, and treatment is complex, involving treatment of the aetiology and concomitant medical illnesses, whilst balancing the side effects and drug interactions of antiepileptic drugs.
Visual and auditory socio‐cognitive perception in unilateral temporal lobe epilepsy in children and adolescents: a prospective controlled study
Authors: Laurent Agathe , Arzimanoglou Alexis , Panagiotakaki Eleni , Sfaello Ignacio , Kahane Philippe , Ryvlin Philippe , Hirsch Edouard , de Schonen Scania
Published: August 2019

Aim. A high rate of abnormal social behavioural traits or perceptual deficits is observed in children with unilateral temporal lobe epilepsy. In the present study, perception of auditory and visual social signals, carried by faces and voices, was evaluated in children or adolescents with temporal lobe epilepsy.

Methods. We prospectively investigated a sample of 62 children with focal non‐idiopathic epilepsy early in the course of the disorder. The present analysis included 39 children with a confirmed diagnosis of temporal lobe epilepsy. Control participants (72), distributed across 10 age groups, served as a control group. Our socio‐perceptual evaluation protocol comprised three socio‐visual tasks (face identity, facial emotion and gaze direction recognition), two socio‐auditory tasks (voice identity and emotional prosody recognition), and three control tasks (lip reading, geometrical pattern and linguistic intonation recognition). All 39 patients also benefited from a neuropsychological examination.

Results. As a group, children with temporal lobe epilepsy performed at a significantly lower level compared to the control group with regards to recognition of facial identity, direction of eye gaze, and emotional facial expressions. We found no relationship between the type of visual deficit and age at first seizure, duration of epilepsy, or the epilepsy‐affected cerebral hemisphere. Deficits in socio‐perceptual tasks could be found independently of the presence of deficits in visual or auditory episodic memory, visual non‐facial pattern processing (control tasks), or speech perception. A normal FSIQ did not exempt some of the patients from an underlying deficit in some of the socio‐perceptual tasks.

Conclusion. Temporal lobe epilepsy not only impairs development of emotion recognition, but can also impair development of perception of other socio‐perceptual signals in children with or without intellectual deficiency. Prospective studies need to be designed to evaluate the results of appropriate re‐education programs in children presenting with deficits in social cue processing.
A child with ictal vocalizations and generalized epilepsy
Authors: Kurian Mary , Barras Anne‐Chantal Heritier , Korff Christian M
Published: August 2019

Ictal vocalizations in the form of both articulate speech and non‐speech vocalizations have been described in focal epilepsies, with seizures originating mainly from the frontal and temporal lobe, however, this phenomenon has not been described in generalized epilepsies. We report the case of an adolescent boy with juvenile‐onset generalized epilepsy who presented with ictal “ovine vocalizations” (resembling the bleating of sheep). The ictal EEG revealed a clear correlate of vocalizations with time‐locked generalized spikes and polyspike discharges. The 3T cerebral MRI ruled out any focal lesion. The boy is currently seizure‐free under valproic acid, after twelve months of follow‐up. We conclude that ictal non‐speech vocalizations may be observed not only in focal or structural epilepsies, but also in generalized epilepsies; the exact underlying mechanism of this phenomenon needs to be further delineated. [Published with video sequence]
Neuroimaging in neonatal seizures
Authors: Weeke Lauren C , Van Rooij Linda GM , Toet Mona C , Groenendaal Floris , de Vries Linda S
Published: August 2019

Seizures are the most common sign of neurological dysfunction in full‐term neonates, with an incidence estimated at 0.15–3.5/1,000 live births. Neonatal seizures often reflect severe underlying brain injury and are associated with high rates of mortality and morbidity. Prognosis is primarily determined by the nature, site and extent of the underlying aetiology, making accurate diagnosis and identification of associated brain lesions essential. Data on neuroimaging in newborns presenting with seizures is limited and most studies report on MRI findings in infants with a specific underlying problem, such as hypoxic‐ischaemic encephalopathy, stroke or metabolic disorders. The aim of this review is to discuss the spectrum of neuroimaging findings in full‐term newborns presenting with seizures, divided into subgroups with different underlying aetiologies. A standard neonatal MRI protocol is presented.
Periodic eye opening and upward eye deviation accompanied by burst‐suppression, as an isolated clinical manifestation of acute post‐hypoxic myoclonus
Authors: Dericioglu Nese , Arsava Ethem Murat , Topcuoglu Mehmet Akif
Published: August 2019

Various movement disorders have been described following hypoxic‐ischaemic brain injury. Here, we present a 72‐year‐old female patient who developed periodic opening and upward deviation of the eyes as an isolated clinical finding, within 24 hours after cardio‐pulmonary arrest. These movements were accompanied by burst‐suppression on EEG, and both clinical and electrophysiological findings were suppressed 18 hours after intravenous levetiracetam infusion. The strictly periodic nature of both EEG discharges and eye opening with vertical deviation suggest a cause due to either activation of a subcortical/brainstem pacemaker reciprocally stimulating the cortex, or, alternatively, post‐anoxic burst activity of viable cortical neural networks, somehow stimulating the relevant oculomotor nuclei. Together with previous similar cases, our case expands the spectrum of post‐resuscitation myoclonus syndromes with the addition of this rare isolated oculopalpebral subtype. [Published with video sequence]
Panayiotopoulos syndrome and diffuse paroxysms as the first EEG manifestation at clinical onset: a study of nine patients
Authors: Caraballo Roberto Horacio , Pasteris María Constanza , Portuondo Ernesto , Fortini Pablo Sebastian
Published: August 2019

Aim. To present a retrospective study of nine children with Panayiotopoulos syndrome associated with diffuse spikes and waves as the sole EEG manifestation at onset.

Methods. Charts of children with typical clinical criteria of Panayiotopoulos syndrome, electroclinically followed between February 2000 and February 2012, were reviewed.

Results. Among 150 patients who met the electroclinical criteria of Panayiotopoulos syndrome, we identified nine children who presented with the typical clinical manifestations but who, on EEG, only had diffuse paroxysms at onset that continued along the course of the syndrome. In three, in addition to the diffuse paroxysms, focal spikes appeared later. From a clinical point of view, other features were otherwise unremarkable. Diffuse spike‐and‐wave discharges were observed in all patients when awake and during sleep (100%). Later, three children also had focal spikes during sleep, which were occipital in one, frontal in one, and temporo‐occipital in the remaining patient. Spikes were activated by sleep in all three cases. During disease evolution, no particular electroclinical pattern was observed. Two patients who received clobazam and carbamazepine, respectively, did not respond well to the drugs and valproic acid was added with excellent seizure control. Outcome was good.

Conclusions. We present evidence that patients with Panayiotopoulos syndrome may have diffuse discharges at onset as the sole EEG manifestation, which last throughout the course of the syndrome. In some, focal paroxysms developed later. The course was benign. In our group of patients, clinical features and evolution were similar to those of typical cases of Panayiotopoulos syndrome.
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4
Authors: Okumura Akihisa , Ishii Atsushi , Shimojima Keiko , Kurahashi Hirokazu , Yoshitomi Shinsaku , Imai Katsumi , Imamura Mari , Seki Yuko , Shimizu Toshiaki , Hirose Shinichi , Yamamoto Toshiyuki
Published: August 2019

In order to clarify the phenotypes of 20q13.33 microdeletion, clinical manifestations and genetic findings from four patients are discussed in relation to chromosomal microdeletions at 20q13.33. All patients had epileptic seizures mostly beginning within the neonatal period and disappearing by 4 months of age, similar to epilepsy phenotypes of benign familial neonatal seizures. We performed array comparative genomic hybridization analysis in order to investigate the chromosomal aberration. Developmental outcome was good in two patients with deletion restricted to three genes (CHRNA4, KCNQ2, and COL20A1), whereas delay in developmental milestones was observed in the other two with a wider range of deletion. Information obtained from array comparative genomic hybridization may be useful to predict seizure and developmental outcome, however, there is no distinctive pattern of abnormalities that would arouse clinical suspicion of a 20q13.33 microdeletion. Deletion of KCNQ2 and CHRNA4 does not appear to affect seizure phenotype. Molecular cytogenetic techniques, such as array comparative genomic hybridization, will be necessary to clarify the relationship between phenotypes and individual genes within this region.
Seizure ending signs in patients with dyscognitive focal seizures*
Authors: Gavvala Jay R. , Gerard Elizabeth E. , Macken Mícheál , Schuele Stephan U.
Published: August 2019

Aim. Signs indicating the end of a focal seizure with loss of awareness and/or responsiveness but without progression to focal or generalized motor symptoms are poorly defined and can be difficult to determine. Not recognizing the transition from ictal to postictal behaviour can affect seizure reporting accuracy by family members and may lead to delayed or a lack of examination during EEG monitoring, erroneous seizure localization and inadequate medical intervention for prolonged seizure duration.

Methods. Our epilepsy monitoring unit database was searched for focal seizures without secondary generalization for the period from 2007 to 2011. The first focal seizure in a patient with loss of awareness and/or responsiveness and/or behavioural arrest, with or without automatisms, was included. Seizures without objective symptoms or inadequate video‐EEG quality were excluded.

Results. A total of 67 patients were included, with an average age of 41.7 years. Thirty‐six of the patients had seizures from the left hemisphere and 29 from the right. All patients showed an abrupt change in motor activity and resumed contact with the environment as a sign of clinical seizure ending. Specific ending signs (nose wiping, coughing, sighing, throat clearing, or laughter) were seen in 23 of 47 of temporal lobe seizures and 7 of 20 extra‐temporal seizures.

Conclusions. Seizure ending signs are often subtle and the most common finding is a sudden change in motor activity and resumption of contact with the environment. More distinct signs, such as nose wiping, coughing or throat clearing, are not specific to temporal lobe onset. A higher proportion of seizures during sleep went unexamined, compared to those during wakefulness. This demonstrates that seizure semiology can be very subtle and arousals from sleep during monitoring should alert staff. Patient accounts of seizure frequency appear to be unreliable and witness reports need to be taken into account. [Published with video sequences]
Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation
Authors: Xixis Kathryn I , Mikati Mohamad A
Published: August 2019

WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal‐onset seizure at three months of age and was subsequently noted to have psychomotor delay. At 11 months of age, she developed epileptic spasms. Her EEG showed hypsarrhythmia. An extensive neurogenetic workup and brain MRI, revealing normal data, ruled out other detectable causes of epileptic spasms. Whole‐exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease‐causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. We conclude that WDR45 mutations should be considered as a possible aetiology in infants with early‐onset focal seizures and/or in otherwise undiagnosed cases of epileptic spasms.
Oral clomethiazole treatment for paediatric non‐convulsive status epilepticus
Authors: Das Darshan , Varadkar Sophia , Das Krishna B
Published: August 2019

We report a retrospective case study of the use of clomethiazole for treatment of non‐convulsive status epilepticus in a patient not responding to benzodiazepines, illustrated by EEG and video. Clomethiazole can be considered as a safe oral option for management of non‐convulsive status epilepticus when conventional treatment has failed. [Published with video sequences online]