bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ictus emeticus presenting as an unusual seizure type in chromosome 22q11.2 deletion syndrome
Authors: Hung Pi‐Lien , Huang Li‐Tung , Kwan Shang‐Yeong , Chang Kai‐Ping , Chen Hsin‐Hung , Lee Yi‐Yen , Fan Hueng‐Chuen , Chen Chien 
Published: August 2019

AbstractWe present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic‐clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video‐EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack. The ictal vomiting ceased following management with oxcarbazepine, high‐dose phenobarbital, and a ketogenic diet. The unique seizure type and rare ictal EEG findings are the first reported in a child with chromosome 22q11.2 deletion syndrome. This case highlights that ictus emeticus without detectable epileptic discharge on EEG is one potential epileptic presentation in this genetic syndrome. [Published with video sequence on www.epilepticdisorders.com]
Intracranial investigation of a patient with nodular heterotopia and hippocampal sclerosis: dealing with a dual pathology
Authors: Ladino Lady Diana , Dash Chelsea , Wu Adam , Tellez‐Zenteno Jose Francisco 
Published: August 2019

AbstractThe pre‐operative assessment and surgical management of patients with dual pathology is challenging. We describe a patient with drug‐resistant focal epilepsy with hippocampal sclerosis and extensive periventricular nodular heterotopia in the same hemisphere. The semiology, scalp EEG, and imaging were divergent, but the presence of focal interictal and ictal epileptic discharges of the putative ictal onset zone resulted in successful localization of the epileptogenic zone. A less aggressive resection was performed based on intracranial EEG recording. The patient has been seizure‐free for three years since resection. Electroclinical hypotheses and challenges in defining the epileptogenic network are discussed.
Educational needs of epileptologists regarding psychiatric comorbidities of the epilepsies: a descriptive quantitative survey
Authors: Mula Marco , Cavalheiro Esper , Guekht Alla , Kanner Andres M. , Lee Hyang Woon , Özkara Çiğdem , Thomson Alfredo , Wilson Sarah J. ,   on behalf of the Task Force on Education of the ILAE Commission on Neuropsychiatry
Published: August 2019

AbstractAim. Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy.Methods. The Task Force designed a quantitative questionnaire to survey the self‐perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills.Results. A total of 211 respondents from 36 different countries participated in the survey. Confidence and usefulness scores suggest that responders would most value education and training in the management of specific clinical scenarios. Child neurologists identified major Axis I disorders, such as mood and anxiety disorders, while adult neurologists identified attention deficit hyperactivity disorder, intellectual disabilities, and autistic spectrum disorder as key areas. Both adult and child neurologists identified screening skills as the priority. Psychiatrists mainly valued specific training in the management of psychiatric complications of epilepsy surgery or psychiatric adverse events of antiepileptic drugs. Sessions during congresses and face‐to‐face meetings represent the preferred educational format, while e‐learning modules and review papers were chosen by a minority of respondents.Conclusions. Results of this survey identify key areas for improvement in managing the psychiatric comorbidities of epilepsy and suggest specific strategies to develop better training for clinicians involved in epilepsy care.
Transient lesions of the splenium of the corpus callosum following rapid withdrawal of levetiracetam
Authors: Sawagashira Ryo , Narita Hisashi , Hashimoto Naoki , Kurita Tsugiko , Nakagawa Shin , Saitoh Takuya , Kusumi Ichiro 
Published: August 2019

AbstractTransient lesions of the splenium of the corpus callosum are characterized by MRI findings. The lesions are very rare, but significant from a clinical standpoint as differential diagnoses include serious conditions such as encephalitis, meningitis, and neuroleptic malignant syndrome. In addition, it is reported that some are attributed to the withdrawal of antiepileptic drugs. Here, we present a case of transient lesions of the splenium of the corpus callosum following rapid withdrawal of levetiracetam alone. To the best of our knowledge, this is the first report of such a case. Moreover, it is reported that cases of incidental transient lesions of the splenium of the corpus callosum are detected in Japan more often than in other countries, and as a result are prone to over‐triage. Taking this into consideration, in the event of transient lesions of the splenium of the corpus callosum, the utmost attention must be paid to clinical symptoms and history relating to any of the aforementioned serious conditions.
Practical clues for diagnosing WWOX encephalopathy
Authors: Tarta‐Arsene Oana , Barca Diana , Craiu Dana , Iliescu Catrinel 
Published: August 2019

AbstractThe WW domain‐containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early‐infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early‐onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly. Metabolic disease was excluded. Whole‐exome sequencing showed mutations in the WW domain‐containing oxidoreductase gene. Our findings extend the phenotypic traits of this aggressive epileptic encephalopathy, with persistent epileptic spasms and hypsarhythmia as a part of the electroclinical phenotype, demonstrating that microcephaly is not mandatory for diagnosis, even when associated with progressive cerebral atrophy. These mutations might be more frequent than expected among early‐onset epileptic encephalopathies. We present practical clues for the diagnosis of WWOX encephalopathy in order to avoid unnecessary investigations and ensure appropriate genetic counselling for the families.
Brain connectivity changes during ictal aggression (a strangulation attempt)
Authors: Bartolomei Fabrice , Lagarde Stanislas , Lambert Isabelle , Trébuchon Agnes , Villalon Samuel Médina , McGonigal Aileen , Benar Christian G 
Published: August 2019

AbstractIctal aggressive behaviour is a rare manifestation of focal seizures. We report an episode of ictal aggression occurring during an intracerebrally recorded seizure (using stereoelectroencephalography) in a patient with drug‐resistant temporal lobe epilepsy. Aggression occurred during the last part of the seizure and was coincident with marked EEG slowing of the frontal regions and persistent ictal activity in the medial temporal lobe. A functional connectivity study (h2estimation of interdependencies) showed a bilateral massive hypersynchronization between frontal and temporal regions. This case illustrates the occurrence of aggression during imbalance between the electrical activity in the temporal limbic cortex and prefrontal cortex, in agreement with the current neurobiological theories of aggression.
The use of single bipolar scalp derivation for the detection of ictal events during long‐term EEG monitoring
Authors: Bennis Frank C , Geertsema Evelien E , Velis Demetrios N , Reus Elise EM , Visser Gerhard H 
Published: August 2019

AbstractAim. Epilepsy is difficult to diagnose using routine EEG recordings of short duration in patients who have low seizure frequency. Long‐term EEG may be useful but is impractical in an out‐of‐hospital setting. We investigated whether single‐channel scalp EEG placed behind the earlobe is suitable for seizure identification during prolonged EEG monitoring.Methods. Scalp EEG samples were selected from subjects over 15 years of age, and comprised two segments of either background followed by seizure or background followed by background. Bipolar EEG derivations in three directions (F8‐T8, C4‐T8 and T8‐P8) were evaluated for the presence of a seizure by two experienced reviewers. For each EEG segment containing a seizure, one pair of electrodes was oriented towards the suspected region of seizure onset, while two pairs of electrodes were oriented elsewhere.Results. The EEG data contained five frontally localized seizures, five parietal, five temporal, two occipital, and four primary or secondary generalized seizures. The sensitivity and specificity for recognition of seizures was 86% and 95% for Reviewer 1, and 79% and 99% for Reviewer 2, respectively. When identifying a seizure with the lead orientation towards the region of seizure onset, both reviewers identified 20 out of 21 seizures (95%). When the lead was not oriented towards the region of seizure onset, the reviewers identified 34 and 30 out of 42 ictal records correctly, respectively.Conclusions. These results suggest that it is possible to identify epileptic seizures by bipolar EEG derivation using only two scalp electrodes. Lead orientation towards the suspected region of seizure onset is important for optimal detection sensitivity.
De novoabsence status epilepticus of late onset (DNASLO) precipitated by oral treatment with cefuroxime: description of an ambulatory case
Authors: Fernández‐Torre José L , Paramio‐Paz Alicia , López‐Delgado Anjana , Martín-García María , González‐Aramburu Isabel , Hernández‐Hernández Miguel A 
Published: August 2019

ABSTRACTWe describe the case of an elderly woman with an episode of ambulatoryde novoabsence status epilepticus of late onset (DNASLO) after oral treatment with cefuroxime. A high level of suspicion of DNASLO in cases of unexplained confusion in adults or elderly subjects taking cephalosporins is essential to prompt an emergency EEG and, in turn, rapidly achieve an appropriate diagnosis and enable optimal treatment.
Serial EEG findings in anti‐NMDA receptor encephalitis: correlation between clinical course and EEG
Authors: Ueda Jun , Kawamoto Michi , Hikiami Ryota , Ishii Junko , Yoshimura Hajime , Matsumoto Riki , Kohara Nobuo 
Published: August 2019

ABSTRACTAnti‐NMDA receptor encephalitis is a paraneoplastic encephalitis characterised by psychiatric features, involuntary movement, and autonomic instability. Various EEG findings in patients with anti‐NMDA receptor encephalitis have been reported, however, the correlation between the EEG findings and clinical course of anti‐NMDA receptor encephalitis remains unclear. We describe a patient with anti‐NMDA receptor encephalitis with a focus on EEG findings, which included: status epilepticus, generalised rhythmic delta activity, excess beta activity, extreme delta brush, and paroxysmal alpha activity upon arousal from sleep, which we term“arousal alpha pattern”. Initially, status epilepticus was observed on the EEG when the patient was comatose with conjugate deviation. The EEG then indicated excess beta activity, followed by the emergence of continuous slow activity, including generalised rhythmic delta activity and extreme delta brush, in the most severe phase. Slow activity gradually faded in parallel with clinical amelioration. Excess beta activity persisted, even after the patient became almost independent in daily activities, and finally disappeared with full recovery. In summary, our patient with anti‐NMDA receptor encephalitis demonstrated slow activity on the EEG, including extreme delta brush during the most severe phase, which gradually faded in parallel with clinical amelioration, with excess beta activity persisting into the recovery phase.
A case of anti‐NMDA receptor encephalitis revealed by insular epilepsy
Authors: De Maeseneire Charlotte , Tahry Riem El , Santos Susana Ferrao 
Published: August 2019

ABSTRACTAnti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis is an autoimmune disorder of the central nervous system that typically manifests predominantly as a psychiatric disorder. However, other manifestations such as epileptic seizures, abnormal movements, and memory or language complications are not unusual. Here, we report the case of a young man who presented with a new‐onset epilepsy, with ictal semiology suggestive of insular involvement; this hypothesis was supported by a PET‐CT study. Anti‐NMDAR antibodies were found in the CSF, confirming the diagnosis of anti‐NMDAR encephalitis. A review of the literature reveals that epilepsy can be the first manifestation of NMDAR encephalitis, with a clear male predominance. Despite its rarity, neurologists should consider this diagnosis for any young patient developing a new‐onset epilepsy with temporal or insular features, particularly if the patient is male. Other cognitive or behavioural signs, even very subtle, should also prompt diagnosis.
Refractory chronic epilepsy associated with neuronal auto‐antibodies: could perisylvian semiology be a clue?
Authors: Gillinder Lisa , Tjoa Linda , Mantzioris Basil , Blum Stefan , Dionisio Sasha 
Published: August 2019

ABSTRACTAims. We report a case series of 10 patients with chronic medically refractory antibody‐positive autoimmune epilepsy and assess their common clinical features. Immune‐mediated seizures are most commonly reported in the context of encephalitis or encephalopathy, with few reports focusing on lone, chronic epilepsy in the outpatient setting. Our aim was to define the potential diagnostic clues that might be present in these cases, leading to consideration of an autoimmune cause of the epilepsy.Methods. We performed a retrospective review of all patients presenting to the outpatient department of our unit who underwent autoimmune screening. All patients with chronic epilepsy and a positive result for an antibody known to be associated with epilepsy were included.Results. Sixty‐three patients underwent testing. Thirteen returned a positive result, however, only 10 of these were patients which chronic epilepsy who did not present with an acute illness. Common features in these cases included: perisylvian semiology, EEG abnormalities in the mid temporal region, normal or non‐specific MRI findings, depression, and head injury.Conclusion. In cases of medically refractory, lesion‐negative epilepsy, with predominantly perisylvian semiology, clinicians should have a high level of suspicion for the diagnosis of autoimmune aetiologies and a low threshold to perform autoantibody screening. This is especially true if there are atypical electrographic findings, a previous history of head injury, or co‐morbid depression.
The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?
Authors: Brodie Martin J. , Zuberi Sameer M. , Scheffer Ingrid E. , Fisher Robert S. 
Published: August 2019

ABSTRACTThe International League against Epilepsy (ILAE) published in the April 2017 edition of Epilepsia three companion articles on the classification of seizures and the epilepsies. These represent a long‐awaited update on the original 1981 and 1989 publications and provide a modern descriptive template. The new classification presents three levels of terminology, involving seizure types, epilepsy types, and syndromes. In this fourth paper, we present an interpretation of these new concepts for people with epilepsy and those who care for them, as well as for young medical doctors not specialized in epilepsy and nurses. Our goal in writing this paper is to ensure that everyone is speaking and understanding the same language, which is fundamental to the optimal management of people with epilepsy.
De novolate‐onset absence status epilepticus or late‐onset idiopathic generalized epilepsy? A case report and systematic review of the literature
Authors: Brigo Francesco , Tavernelli Veronica , Nardone Raffaele , Trinka Eugen 
Published: August 2019

ABSTRACTAim. Idiopathic (genetic) generalized epilepsies (IGEs) are age‐related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient withde novolate‐onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late‐onset IGE. We also discuss the relationship betweende novolate‐onset ASE and late‐onset IGE, and provide a comprehensive and critical review of the available literature on late‐onset (i.e. onset ≥60 years) IGE.Methods. MEDLINE (1966–2016 [23thApril]) was systematically searched in order to identify reports of patients with late‐onset IGE. Grey literature was also comprehensively searched.Results. We identified nine patients with electroclinical features suggestive of late‐onset IGE. Median age at seizure onset was 71 years (range: 60–80), with a female prevalence (67%). A family history of epilepsy was reported in 67% of cases. All patients had generalized tonic‐clonic seizures, and 44% also had myoclonic seizures. Treatment and outcome were reported for six patients; all of whom reached seizure freedom under monotherapy with valproic acid (83%) or lamotrigine (17%) (range of follow‐up: 3 to 24 months).Conclusion. Late‐onset IGE are entities with unknown prevalence and incidence, and should be differentiated on the basis of late‐onset reactivation of previous IGE. Late‐onset IGEs are probably unrecognized or misdiagnosed, based on a common misconception that all elderly individuals with first‐ever seizures have focal symptomatic epilepsy. Late‐onset IGE should be actively investigated by accurate history taking aimed at identifying seizures, which may have been unnoticed, and familial antecedents of epilepsy. In elderly patients presenting withde novolate‐onset ASE, a diagnosis of late‐onset IGE should be considered in the differential diagnosis, particularly in atypical cases (e.g. absence of triggering factors, coexistence of generalized tonic‐clonic or myoclonic seizures, and interictal generalized epileptiform discharges).
Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome
Authors: Çetin Özdem Ertürk , Yalçınkaya Cengiz , Karaman Birsen , Demirbilek Veysi , Tüysüz Beyhan 
Published: August 2019

ABSTRACTProximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2‐21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array‐CGH analysis revealed de novo 14q11.2‐21.1 duplication, spanning ∼20 Mb (minimal interval chr14:20203610_40396835). The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike‐and‐wave activity on EEG. The possibility of this chromosomal abnormality should be kept in mind in patients with developmental delay, epilepsy, and hypsarrtyhmia, in the absence of any structural brain lesion or metabolic aetiology.
A case of perioral myoclonia with absences and its evolution in adulthood?
Authors: Surmelı Reyhan , Kurucu Hatice , Yalcın Ayse Destina , Yenı Seher Naz 
Published: August 2019

ABSTRACTThe rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52‐year‐old man who was referred to our department due to treatment‐resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video‐EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA. Firstly, consciousness was preserved during seizures, with no manifestation of absences. Secondly, regarding the EEG features, in some of the seizures, the perioral motor symptoms were tonic rather than myoclonic. The defining features of POMA are discussed in relation to this case.
Epileptic ictal strabismus: a case report and review of the literature
Authors: Brigo Francesco , Alessandrini Franco , Ragnedda Giammario , Canu Piera , Tavernelli Veronica , Bratti Arianna , Nardone Raffaele 
Published: August 2019

ABSTRACTIctal strabismus, sometimes associated with epileptic nystagmus, is an extremely rare epileptic phenomenon, suggestive of cortical involvement in monocular eye movement control. We describe a patient with ictal disconjugate contraversive horizontal eye deviation of cortical origin as the main clinical feature of a focal seizure. A 17‐year‐old, previously healthy woman had a seizure characterized by initial rightward conjugate eye deviation, followed by convergent strabismus due to adduction of the right eye towards the nose without conjugate left eye abduction (esotropia), forced leftward head deviation with impaired awareness, and subsequent evolution into a bilateral tonic‐clonic seizure. Postictal and interictal neurological status were unremarkable; more specifically, neuro‐ophthalmological examination revealed no nystagmus or altered eye motility. Ictal EEG showed a rhythmic theta activity over the right posterior temporal region, involving fronto‐central regions when strabismus appeared. MRI showed cortical dysplasia in the right temporal lobe. Due to the low spatial resolution of scalp EEG, we could not identify with precision the symptomatogenic zone underlying ictal strabismus. However, the concomitant appearance of rhythmic theta activity over the right fronto‐central region and the leftward head version with MRI perfusion sequences, showing cerebral blood flow increase in the right frontal eye field area, suggest involvement of the right frontal lobe. [Published with video sequence onwww.epilepticdisorders.com].