bluuebunny/crossref_metadata_2025 huggingface dataset:
Auditory aura in frontal opercular epilepsy: sounds from afar
Authors: Thompson Stephen A , Alexopoulos Andreas , Bingaman William , Gonzalez‐Martinez Jorge , Bulacio Juan , Nair Dileep , So Norman K
Published: August 2019

Auditory auras are typically considered to localize to the temporal neocortex. Herein, we present two cases of frontal operculum/perisylvian epilepsy with auditory auras. Following a non‐invasive evaluation, including ictal SPECT and magnetoencephalography, implicating the frontal operculum, these cases were evaluated with invasive monitoring, using stereoelectroencephalography and subdural (plus depth) electrodes, respectively. Spontaneous and electrically‐induced seizures showed an ictal onset involving the frontal operculum in both cases. A typical auditory aura was triggered by stimulation of the frontal operculum in one. Resection of the frontal operculum and subjacent insula rendered one case seizure‐ (and aura‐) free. From a hodological (network) perspective, we discuss these findings with consideration of the perisylvian and insular network(s) interconnecting the frontal and temporal lobes, and revisit the non‐invasive data, specifically that of ictal SPECT.
Long‐term health‐related quality of life in drug‐resistant temporal lobe epilepsy after anterior temporal lobectomy
Authors: Chou Chien‐Chen , Shih Yang‐Hsin , Yen Der‐Jen , Kwan Shang‐Yeong , Yu Hsiang‐Yu
Published: August 2019

Epilepsy surgery is beneficial to patients suffering from drug‐resistant temporal lobe epilepsy in the short term, but fewer reports of long‐term outcomes have been published. To clarify the long‐term outcomes of seizure control and health‐related quality of life after epilepsy surgery, we enrolled 48 patients suffering from drug‐resistant temporal lobe epilepsy. All of the patients received comprehensive presurgical evaluations, including the Quality of Life in Epilepsy Inventory‐89 (QOLIE‐89) questionnaire to measure their health‐related quality of life. Among the patients, 28 patients received surgery (surgical group) and 20 patients remained under medication (medical group). Eight years later, the seizure frequency and QOLIE‐89 were evaluated. The seizure‐free rate was much higher in the surgical group (53.6%) than in the medical group (5%), eight years after the initial evaluation. The follow‐up QOLIE‐89 score was significantly higher in the surgical group than in the medical group. Moreover, the seizure frequency inversely correlated to the QOLIE‐89 score, regardless of the treatment group. Our results provide evidence that epilepsy surgery confers benefits with respect to seizure control and health‐related quality of life for drug‐resistant temporal lobe epilepsy patients based on long‐term follow‐up.
Cardiogenic syncope diagnosed as epileptic seizures: the importance of ECG during video‐EEG recording
Authors: Mayor Luis C , Lemus Hernan N , Burneo Jorge , Palacio Ana Cristina , Linares Sergio
Published: August 2019

We describe four patients with a previous diagnosis of epilepsy. After reviewing the ECG during the video‐EEG recording, cardiogenic syncope, resulting from a cardiac arrhythmia, was identified as the cause of the seizures. Epileptic disorders and cardiogenic syncope may both manifest with convulsions, loss of consciousness, and loss of postural tone, leading to a high level of misdiagnosis. The one‐lead ECG during video‐EEG monitoring is a key component, which may allow correct diagnosis and treatment.
Lesion‐negative anterior cingulate epilepsy
Authors: Lacuey Nuria , Davila Javier Chapa , Zonjy Bilal , Amina Shahram , Couce Marta , Turnbull John , Miller Jonathan , Lüders Hans , Lhatoo Samden D
Published: August 2019

MRI‐negative anterior cingulate epilepsy is a rare entity. Herein, we describe a case of MRI and functional imaging‐negative intractable frontal lobe epilepsy in which, initially, secondary bilateral synchrony of surface and intracranial EEG and non‐lateralizing semiology rendered identification of the epileptogenic zone difficult. A staged bilateral stereotactic EEG exploration revealed a very focal, putative ictal onset zone in the right anterior cingulate gyrus, as evidenced by interictal and ictal high‐frequency oscillations (at 250 Hz) and induction of seizures from the same electrode contacts by 50‐Hz low‐intensity cortical stimulation. This was subsequently confirmed by ILAE class 1 outcome following resection of the ictal onset and irritative zones. Histopathological examination revealed focal cortical dysplasia type 1b (ILAE Commission, 2011) as the cause of epilepsy. The importance of anatomo‐electro‐clinical correlation is illustrated in this case in which semiological and electrophysiological features pointed to the anatomical localization of a challenging, MRI‐negative epilepsy. [Published with video sequence]
Fall related to epileptic seizures in the elderly
Authors: Nguyen‐Michel Vi‐Huong , Bornand Anne , Balathazar Aroquia‐Marie‐Edith , Kinugawa Kiyoka , Lâm Xuân‐Yên , Piette François , Mariani Jean , Dupont Sophie
Published: August 2019

It is well known that both falls and epileptic seizures are very frequent and harmful in the elderly. Moreover, although seizures may cause falls, their relationship is poorly documented in this population. We report four women (mean age: 84.5 years) who presented falls with: late‐onset focal seizures of possible parietal (Case 1) or frontal localisation (Case 2), early onset with late aggravation of juvenile myoclonic epilepsy (Case 3), and generalised situation‐related myoclonic seizures (Case 4). Falls were presumably associated with tonic posturing of left (Case 1) or right (Case 2) hemibody, to bilateral and massive myoclonic jerks (Cases 3 and 4) with a loss of consciousness (Case 3). The diagnosis of seizures was difficult and routine EEG was unremarkable in Cases 1 and 2, requiring video‐EEG monitoring to capture the clinical events. Adequate treatment offered recovery from seizures and falls in all patients. Other mechanisms of seizure‐induced falls in older patients and their management are discussed. In conclusion, falls may be caused by different seizure types and appear to be underestimated due to difficulties in seizure diagnosis in the elderly. Recognizing falls related to seizures is important in geriatric practice, as it facilitates adequate management.
Insight into the precuneus: a novel seizure semiology in a child with epilepsy arising from the right posterior precuneus
Authors: Mailo Janette , Tang‐Wai Richard
Published: August 2019

To date, there is limited understanding of the role of the precuneus. fMRI studies have suggested its involvement in a wide spectrum of highly integrated tasks, including spatially‐guided behaviour, visuo‐spatial imagery, and consciousness. We present a patient with intractable parietal lobe epilepsy arising from a lesion localized to the right precuneus. Two seizure types with distinct semiologies were captured on video‐EEG monitoring. The first type consisted of an urge described as a “feeling of wanting to move”. On video analysis, the patient is seen to turn his head and body to his left. He remains conscious, he is able to answer questions and when asked, he can look to his right. This seizure was associated with an ictal pattern localized to the right parieto‐occipital region. The second seizure type consisted of reading‐induced visual distortion with macropsia and micropsia. Interictally, intermittent rhythmic slowing and spikes were seen and localized to the parietal midline and the right parieto‐occipital regions. Our patient's seizures are positive phenomena of the right precuneus and its related processing network. They represent unique seizure semiologies that offer further insight into the role of the precuneus in spatial awareness, visuo‐spatial processing and consciousness.
Generalized seizure with falling and unresponsive staring provoked by somatosensory stimulation: a video‐EEG study*
Authors: Suzuki Sayaka , Sassa Kaori , Abe Yuichi , Yamanouchi Hideo
Published: August 2019

We report a 4‐year‐old boy with generalized seizures with abrupt falling and unresponsive staring provoked by somatosensory stimuli of the face. Ictal manifestation comprised a sudden fall immediately after wiping the face, followed by unresponsive staring for around 10 seconds, during which time the video‐EEG recorded paroxysmal 3‐Hz diffuse spike‐wave complexes, which were followed by high‐voltage 3.5 to 4‐Hz delta wave discharges, predominantly appearing in the bilateral frontal areas. Seizures were not controlled by clonazepam, valproate or levetiracetam, but were successfully treated with lamotrigine added to valproate. This type of generalized reflex seizure has so far not been reported in the literature. [Published with video sequence]
Bradycardia from flash stimulation
Authors: Einspenner Michael , Brunet Donald G. , Boissé Lomax Lysa , Spiller Allison E.
Published: August 2019

This case study documents a patient who experienced bradycardia brought on by flash stimulation during a routine outpatient EEG recording. The patient had known photosensitive seizures in the past. During this routine EEG, the patient's heart rate dropped to about 12 beats per minute with the EEG displaying slow‐delta‐frequency waves with no epileptiform spikes or sharp waves. During immediate follow‐up, in our emergency department, the patient had a brief asystolic event, followed by bradycardia. Cardiology examinations were normal. We propose that this response was a photic‐triggered reflex vasovagal reaction.
Epileptic auras: phenomenology and neurophysiology
Authors: Perven Ghazala , So Norman K
Published: August 2019

This review discusses the phenomenology, neurophysiology, and localization of epileptic auras with particular emphasis on how auras can manifest as part of an epileptic network. Epileptic auras, as the first clinical symptom of a seizure, may lead us to infer the site of seizure onset. At the same time, auras can also be a result of activation or alteration in an epileptic network. They can be highly specific or ill‐defined in symptomatology. They occur as a result of limited seizure activation, allowing access of the neural signal to the conscious brain. An understanding of epileptic auras offers a window into understanding fundamental brain functions, and helps the clinician at the bedside to make appropriate diagnostic and therapeutic choices.
A case of recurrent status epilepticus and successful management with progesterone
Authors: Ramanujam Bhargavi , Arora Amit , Malhotra Varun , Dash Deepa , Mehta Santosh , Tripathi Manjari
Published: August 2019

Catamenial epilepsy (CE) is a commonly observed phenomenon among women with epilepsy, the management of which is both hormonal and non‐hormonal. Progesterone therapy has been tried in these patients, as the possible mechanism of CE is withdrawal of progesterone and a higher oestrogen/progesterone ratio in the perimenstrual and periovulatory periods. Here, we describe a 24‐year‐old lady with multiple seizure types since childhood, which were refractory to adequate antiepileptic drug therapy after menarche with catamenial clustering of seizures. She went on to have several episodes of non‐convulsive status epilepticus also with similar periodicity, which would abate only with midazolam infusion, without the need for ventilatory support. She was tried on acetazolamide, progesterone vaginal pessaries, and maximum tolerated doses of antiepileptic medications, but finally responded to intramuscular and oral progesterone, and has been seizure‐free for more than a year.
Epilepsia partialis continua triggered by traumatic hand injury: a peripheral tuning of brain excitability?
Authors: Paglioli Eliseu , Alves Martins William , De la Cruz Walter , Andrade Victor , Duval da Silva Vinicius , Menezes Nunes Rafael , Palmini André
Published: August 2019

Epilepsia partialis continua is often refractory to antiepileptic medication and its causal relation to peripheral sensory stimuli has only rarely been suggested. We report a man who received surgery for temporal lobe epilepsy 10 years ago, who presented “de novo” epilepsia partialis continua following mild traumatic injury of the left hand. Continuous myoclonus of the left upper limb started the day after injury and persisted unabated for several weeks. Non‐invasive evaluation was inconclusive. Acute electrocorticography during surgery under local anaesthesia revealed continuous, rhythmic spiking over the right sensorimotor cortex. Tailored excision of the posterior bank of the motor and adjacent sensory cortex immediately stopped the continuous myoclonus. Histopathology showed abnormal radial lamination and was compatible with focal cortical dysplasia type IA. Epilepsia partialis continua did not recur for seven years. Afferent stimuli from peripheral injury can disinhibit hyperexcitable sensorimotor cortex leading to epilepsia partialis continua. [Published with video sequences online]
RFT1‐congenital disorder of glycosylation (CDG) syndrome: a cause of early‐onset severe epilepsy
Authors: Aeby Alec , Prigogine Cynthia , Vilain Catheline , Malfilatre Geneviève , Jaeken Jaak , Lederer Damien , Van Bogaert Patrick
Published: August 2019

RFT1‐congenital disorder of glycosylation (CDG) syndrome, a recessive N‐glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non‐specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online]
From here to epilepsy: the risk of seizure in patients with Alzheimer's disease
Authors: Nicastro Nicolas , Assal Frédéric , Seeck Margitta
Published: August 2019

Aim. To describe the association between Alzheimer's disease and seizures by reviewing epidemiological data from available literature and to assess the putative pathophysiological links between neurodegeneration and altered cortical excitability. We also discuss specific antiepileptic treatment strategies in patients with Alzheimer's disease, as well as transient epileptic amnesia as a possible crossroads between degeneration and epilepsy.

Methods. Regarding epidemiology, we searched publications in Pubmed, Medline, Scopus and Web of Science (until September 2015) using the keywords “incidence”, “prevalence” and “frequency”, as well as “Alzheimer's disease” and “seizures”. In addition, therapeutic aspects for seizures in Alzheimer's disease were searched using the key words “antiepileptic drugs”, “seizure treatment” and “Alzheimer”.

Results. The prevalence and incidence rates of seizures were found to be increased 2 to 6‐fold in patients with Alzheimer's disease compared to age‐adjusted control patients. Treatment strategies have mainly been extrapolated from elderly patients without dementia, except for one single randomised trial, in which levetiracetam, lamotrigine and phenobarbital efficacy and tolerance were investigated in patients with Alzheimer's disease. Mouse models appear to show a major role of amyloid precursor protein and its cleavage products in the generation of cortical hyperexcitability.

Conclusion. A link between Alzheimer's disease and epilepsy has long been described and recent cohort studies have more clearly delineated risk factors associated with the genesis of seizures, such as early onset and possibly severity of dementia. As genetic forms of Alzheimer's disease and experimental mouse models suggest, beta‐amyloid may play a prominent role in the propagation of synchronised abnormal discharges, perhaps more via an excitatory mode than a direct neurodegenerative effect.
Fibromyalgia and seizures
Authors: Tatum William O. , Langston Michael E. , Acton Emily K.
Published: August 2019

The purpose of this case‐matched study was to determine how frequently fibromyalgia is associated with different paroxysmal neurological disorders and explore the utility of fibromyalgia as a predictor for the diagnosis of psychogenic non‐epileptic seizures. The billing diagnosis codes of 1,730 new, non‐selected patient encounters were reviewed over a three‐year period for an epileptologist in a neurology clinic to identify all patients with historical diagnoses of fibromyalgia. The frequency with which epileptic seizures, psychogenic non‐epileptic seizures, and physiological non‐epileptic events were comorbid with fibromyalgia was assessed. Age and gender case‐matched controls were used for a between‐group comparison. Wilcoxon tests were used to analyse interval data, and Chi‐square was used to analyse categorical data (p<0.05). Fibromyalgia was retrospectively identified in 95/1,730 (5.5%) patients in this cohort. Females represented 95% of the fibromyalgia sample (age: 53 years; 95% CI: 57, 51). Forty‐three percent of those with fibromyalgia had a non‐paroxysmal, neurological primary clinical diagnosis, most commonly chronic pain. Paroxysmal events were present in 57% of fibromyalgia patients and 54% of case‐matched controls. Among patients with fibromyalgia and paroxysmal disorders, 11% had epileptic seizures, 74% had psychogenic non‐epileptic seizures, and 15% had physiological non‐epileptic events, compared to case‐matched controls with 37% epileptic seizures, 51% psychogenic non‐epileptic events, and 12% physiological non‐epileptic events (p = 0.009). Fibromyalgia was shown to be a predictor for the diagnosis of psychogenic non‐epileptic seizures in patients with undifferentiated paroxysmal spells. However, our results suggest that the specificity and sensitivity of fibromyalgia as a marker for psychogenic non‐epileptic seizures in a mixed general neurological population of patients is less than previously described.
Surgery for epilepsy: a systematic review of current evidence
Authors: West Siobhan , Nolan Sarah J. , Newton Richard
Published: August 2019

This seminar discusses the history and development of techniques for surgical intervention for people with refractory focal epilepsy. Published surgical success rates and prognostic factors associated with post‐operative seizure freedom from individual studies have been variable and contradictory. We present here the key findings of a Cochrane systematic review of all evidence published since the introduction of magnetic resonance imaging (MRI) to pre‐operative surgical assessment in 1984. Our findings show the usefulness of uncontrolled case series is now past. Future studies with a prospective controlled design should focus on specific research questions to help improve results and provide better‐informed advice.
Initial manifestation of type I diabetes mellitus as an unusual cause of early post‐operative seizures
Authors: Benova Barbora , Krsek Pavel , Sumnik Zdenek , Kudr Martin , Komarek Vladimir , Tichy Michal
Published: August 2019

We present a case of an 18‐year‐old patient who underwent resective epilepsy surgery for intractable epilepsy caused by focal cortical dysplasia. In the early post‐surgical period, the patient started experiencing atypical seizures refractory to antiepileptic treatment. In due course, abnormally low levels of blood sodium and extremely high levels of blood glucose were discovered. Significant hyperglycaemia was initially ascribed to steroid‐induced diabetes, and antibodies specific to type I diabetes mellitus were subsequently detected, confirming the diagnosis. Following stabilization of glucose and electrolyte levels, the patient became seizure‐free. To our knowledge, this is the first report of presentation of type I diabetes as the cause of early post‐operative seizures. We discuss less common aetiologies of seizures in the early post‐operative period, including metabolic disturbances. Based on our experience, we stress the importance of electrolyte and glucose monitoring in the setting of acute post‐operative seizures.
Early‐life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants
Authors: Venkatesan Charu , Angle Brad , Millichap John J.
Published: August 2019

Advances in genetic testing have led to the identification of increasing numbers of novel gene mutations that underlie infantile‐onset epileptic encephalopathies. Recently, a mutagenesis screen identified a novel gene, SZT2, with no known protein function that has been linked to epileptogenesis in mice. Thus far, two clinical reports have identified children with different recessive mutations in SZT2 and varying clinical phenotypes. One case report described patients with epileptic encephalopathy and the other noted patients with cognitive deficiencies, but normal MRI and no epilepsy. This case report identifies novel mutations (a compound heterozygous frameshift and a nonsense variant) in the SZT2 gene with distinct clinical and radiographic findings relative to those previously reported. Our patient presented with intractable epilepsy at 2 months of age. Seizures were refractory to numerous antiepileptic medications and the patient finally achieved seizure cessation at age 3 years with a combination of divalproex and lamotrigine. Our patient had similar facial dysmorphisms (macrocephaly, high forehead, and down‐slanted palpebral fissures) to a previous case with truncating mutation. While developmental delay and cognitive deficiencies were present, our case had unique MRI findings suggesting migrational abnormalities not previously reported in other cases.
Non‐ketotic hyperglycaemia presenting as epilepsia partialis continua
Authors: Hwang Kyoung Jin , Yoon SungSang , Park Key‐Chung
Published: August 2019

Epilepsia partialis continua is a rare epileptic syndrome observed in patients with brain structural lesions and metabolic disorders. We report a patient with non‐ketotic hyperglycaemia presenting as epilepsia partialis continua with reversible focal brain lesions. An 83‐year‐old woman visited our hospital due to sudden and repetitive left facial twitching lasting for two days. Initial laboratory data revealed serum glucose, osmolality, and sodium levels of 631 mg/dl, 310 mOsm/l, and 130 mEq/l, respectively. EEG was normal. Brain MRI showed low signal changes in the right frontal subcortical area and high signal changes in the surrounding right frontal cortical areas on T2‐weighted, fluid‐attenuated inversion recovery, and diffusion‐weighted images. No seizures recurred after correcting blood glucose levels, hydrating the patient, and infusing valproate (900 mg/day). Follow‐up MRI, six months later, showed complete resolution of the signal changes in the right frontal cortical and subcortical areas and no clinical seizures. When considering non‐ketotic hyperglycaemia with epilepsia partialis continua in an elderly patient, early diagnosis and administration of the appropriate therapy is very important in order to decrease morbidity.
Unverricht‐Lundborg disease
Authors: Crespel Arielle , Ferlazzo Edoardo , Franceschetti Silvana , Genton Pierre , Gouider Riadh , Kälviäinen Reetta , Korja Miikka , Lehtinen Maria K. , Mervaala Esa , Simonato Michele , Vaarmann Annika
Published: August 2019

We first review the clinical presentation and current therapeutic approaches available for treating Unverricht‐Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb‐deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability. These findings set the stage for future studies that may open avenues to improved therapeutic approaches.
Lafora disease
Authors: Turnbull Julie , Tiberia Erica , Striano Pasquale , Genton Pierre , Carpenter Stirling , Ackerley Cameron A. , Minassian Berge A.
Published: August 2019

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype‐phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen. Polyglucosans, or Lafora bodies (LB) are typically found in the brain, periportal hepatocytes of the liver, skeletal and cardiac myocytes, and in the eccrine duct and apocrine myoepithelial cells of sweat glands. Mouse models of the disease and other naturally occurring animal models have similar pathology and phenotype. Hypotheses of LB formation remain controversial, with compelling evidence and caveats for each hypothesis. However, it is clear that the laforin and malin functions regulating glycogen structure are key.

With the exception of a few missense mutations LD is clinically homogeneous, with onset in adolescence. Symptoms begin with seizures, and neurological decline follows soon after. The disease course is progressive and fatal, with death occurring within 10 years of onset. Antiepileptic drugs are mostly non‐effective, with none having a major influence on the progression of cognitive and behavioral symptoms. Diagnosis and genetic counseling are important aspects of LD, and social support is essential in disease management.

Future therapeutics for LD will revolve around the pathogenesics of the disease. Currently, efforts at identifying compounds or approaches to reduce brain glycogen synthesis appear to be highly promising.
Neuronal ceroid lipofuscinoses
Authors: Nita Dragos A. , Mole Sara E. , Minassian Berge A.
Published: August 2019

The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.
KCTD7‐related progressive myoclonus epilepsy
Authors: Van Bogaert Patrick
Published: August 2019

Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy. Patients typically show an initial severe epileptic disorder, with abundant epileptiform discharges on EEG and myoclonic seizures in the foreground, associated with cognitive regression and ataxia. Continuous multifocal myoclonus aggravated by action is observed in more than half of the cases. After a few years, the disease tends to stabilize and long survival can be expected. Some patients remain able to walk independently. The severity of the disease is variable from one patient to another, even within the same family. It is hypothesized that the epileptic disorder may influence the neurological regression observed in patients.
Autosomal dominant cortical tremor, myoclonus and epilepsy
Authors: Striano Pasquale , Zara Federico
Published: August 2019

The term ‘cortical tremor’ was first introduced by Ikeda and colleagues to indicate a postural and action‐induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug‐resistant focal seizures or slight intellectual disability occur in some cases. Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well‐delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified.
Varied responses to benzodiazepine treatment in cephalosporin‐related generalized periodic discharges
Authors: Liu Hung‐Yu , Chou Chien‐Chen , Yen Der‐Jen , Yu Hsiang‐Yu
Published: August 2019

Although benzodiazepines (BZDs) are used as the first‐line treatment for status epilepticus, previous studies have shown inconsistent responses to BZDs in patients with cephalosporin‐related non‐convulsive status epilepticus. In this study, we investigated nine patients with cephalosporin‐related impaired consciousness and their EEGs all showed generalized periodic discharges (GPDs). One of the patients received repetitive BZD injections without discontinuing cephalosporins, and neither his clinical symptoms nor GPDs on EEG responded to BZDs. Seven of the patients received BZDs after discontinuation of cephalosporins, but only two of them responded immediately to BZD administration. One of the patients did not receive BZDs or antiepileptic drugs, and this patient spontaneously recovered consciousness in one day after cephalosporins were discontinued. The changes in consciousness were reversible in all of the nine patients after cephalosporins were withdrawn. The administration of intravenous BZDs in cases with impairment of consciousness and GPDs secondary to cephalosporins may help in only a small number of patients. Cephalosporin withdrawal is ultimately mandatory in these patients.
Can diffusion‐weighted imaging be used as a tool to predict seizures in patients with PLEDS?
Authors: Narayanan Jaishree
Published: August 2019

It is unclear which patients with PLEDs will have associated seizures and therefore will need to be treated aggressively with antiepileptic medications. We present a prospective observational study of ten consecutive non‐anoxic patients with PLEDs based on continuous 24‐hour EEG monitoring. According to the EEG, five of the patients had seizures associated with PLEDs and five had PLEDs but no seizures. The aetiology included: neoplasm (n=1), cortical dysplasia (n=1), acute head trauma (n=1), encephalomalacia related to healed abscess (n=1), intra‐parenchymal haemorrhage (n=1), and no structural lesion (n=5). All patients underwent brain MRI using diffusion‐weighted imaging (DWI). We found that the five patients who had seizures with PLEDs on continuous EEG had restricted diffusion on DWI. In contrast, the five patients who had PLEDs but no seizures on continuous EEG did not show a restricted diffusion pattern on DWI. We will continue to prospectively assess DWI findings in this group of patients and encourage other centres to also review similar data. If our observation is replicated, this would indicate that restricted diffusion on brain MRI may be a useful marker to identify patients with PLEDs on their EEG who are likely to have associated seizures.
Ictal SPECT is useful in localizing the epileptogenic zone in infants with cortical dysplasia
Authors: Kudr Martin , Krsek Pavel , Maton Bruno , Malone Stephen , Jahodova Alena , Komarek Vladimir , Jayakar Prasanna , Duchowny Michael
Published: August 2019

Aims. To assess the localizing value of ictal SPECT in very young epilepsy surgery candidates when cerebral haemodynamic responses are known to be immature.

Methods. We retrospectively studied 13 infants with intractable focal epilepsy caused by focal cortical dysplasia (FCD). Completeness of resection of the (1) ictal SPECT hyperperfusion zone and (2) cerebral cortex with prominent ictal and interictal abnormalities on intracranial EEG (ECoG or long‐term invasive monitoring) and the MRI lesion, when present, were correlated with postoperative seizure outcome.

Results. All five patients with complete resection of the ictal SPECT hyperperfusion zone were seizure‐free compared to only one of eight patients with incomplete or no excision of hyperperfusion zones (p=0.00843). Similar results were noted for the MRI/iEEG‐defined epileptogenic region; five of six patients with complete removal were seizure‐free, whereas only one of seven incompletely resected patients was seizure‐free (p=0.02914). All four patients who underwent complete resection of both regions were seizure‐free compared to none of the six with incomplete resection (p=0.01179).

Conclusion. Despite age‐related differences in cerebral perfusion, ictal SPECT provides useful localization data in infants with FCD. Complete resection of the hyperperfused regions is a strong predictor of favourable outcome. The added information may alleviate the need for invasive EEG evaluations in some patients.
Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings
Authors: Podkorytova Irina , Gupta Ajay , Wyllie Elaine , Moosa Ahsan , Bingaman William , Prayson Richard , Knight Elia M Pestana
Published: August 2019

The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo‐pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic. The related literature is also reviewed. Case 1 had a left functional hemispherectomy and was free of seizures and hypsarrhythmia for six months after surgery. Her gross motor skills improved after surgery. Outcome at 43 months was 1–3 isolated spasms per day. Case 2 had a right fronto‐parietal lobectomy. Her seizures improved in frequency and severity, but remained daily after epilepsy surgery. Neurodevelopment changes included improved alertness and recognition of caregivers. This patient died 21 months after epilepsy surgery of unclear causes. Surgical pathology in both cases showed focal cortical dysplasia associated with other findings, such as nodular heterotopia and polymicrogyria. Epilepsy surgery could be an alternative palliative treatment choice in selective cases of AS, but studies on a larger patient cohort are needed to identify the possible role of surgery in children with AS. The complexity of the pathological findings may offer an explanation for the severity of seizures in AS.
Drug treatment strategies for epilepsy revisited: starting early or late? One drug or several drugs?
Authors: Schmidt Dieter
Published: August 2019

There are two popular strategies for current drug treatment of epilepsy; starting early may be better and polytherapy conveys advantages over monotherapy. This review briefly examines if the historical record is much of a guide to determine the clinical value of these two strategies. Great clinical scientists of the 19th and early 20th century, such as Sir William Gowers, and William Aldren Turner, offered vivid single case studies and showed early results of seizure remission in groups of subjects. The historical record offered, however, no evidence of clear clinical benefits for early treatment and polytherapy. Combination treatment was thought to be useful in only some cases. In agreement, current evidence shows no clear clinical benefit of starting treatment early, except perhaps in severe epilepsy. Polytherapy is clinically useful in a subgroup of subjects, but despite being a standard treatment strategy for over one hundred years, it has been poorly studied. In fact, there is no compelling experimental or clinical evidence for a difference in seizure outcome between monotherapy and polytherapy. This surprising finding should prompt a re‐appraisal regarding the need to test both strategies separately for the licensing of new antiepileptic drugs.
Levetiracetam‐induced thrombocytopenia in a patient with status epilepticus
Authors: Kim Jonguk , Shin Jung‐Won
Published: August 2019

Levetiracetam has broad‐spectrum activity in epilepsy. In contrast to phenytoin, levetiracetam has an ideal pharmacokinetic profile without any severe haemodynamic side effects and therefore intravenous loading of levetiracetam is commonly used in adult patients with status epilepticus, especially those who have medical problems. However, levetiracetam‐induced serious adverse effects, such as thrombocytopenia and pancytopenia, have been reported in the literature. Here, we describe a case of status epilepticus after cardiac arrest treated with levetiracetam in which severe thrombocytopenia developed and was successfully managed by discontinuation of levetiracetam. Our report aims to increase awareness of this rare cause of thrombocytopenia among clinicians and provide a review of the literature.
The insula lobe and sudden unexpected death in epilepsy: a hypothesis
Authors: Li Jia , Ming Qianwen , Lin Weihong
Published: August 2019

Sudden unexpected death in epilepsy (SUDEP) is a major cause of death in patients with refractory epilepsy, particularly those with chronic epilepsy. The physiopathological mechanisms underlying SUDEP have not been elucidated. Autonomic dysregulation of cardiac or respiratory function is thought to underlie SUDEP. Here, we present a summary of available evidence on the involvement of the insular lobe in the regulation of cardiorespiratory function. Ictal discharge that originates in the cortex can, primarily or secondarily, involve the insula lobe through epileptogenic signal networks, leading to cardiorespiratory dysfunction, central apnoea, arrhythmias, and sudden death in patients with epilepsy. Thus, the insula lobe appears to be instrumental in the causation of SUDEP.
Epileptic seizures, coma and EEG burst‐suppression from suicidal bupropion intoxication
Authors: Noda Anna Hiro , Schu Ulrich , Maier Tanja , Knake Susanne , Rosenow Felix
Published: August 2019

Bupropion, an amphetamine‐like dual mechanism drug, is approved and increasingly used for the treatment of major depression, and its use is associated with a dose‐dependent risk of epileptic seizures. Suicide attempts are frequent in major depression and often an overdose of the drugs available is ingested. Therefore, it is important to be aware of the clinical course, including EEG and neurological symptoms, as well as treatment and prognosis of bupropion intoxication. We report on the clinical and EEG course of a women who ingested 27 g of bupropion in a suicide attempt. Myoclonic seizures were followed by generalized tonic‐clonic seizures and coma associated with EEG burst‐suppression and brief tonic seizures. Active carbon and neuro‐intensive care treatment, including respiratory support, were given. Within three days, the patient returned to a stable clinical condition with a mildly encephalopathic EEG. In conclusion, bupropion intoxication requires acute intensive care treatment and usually has a good prognosis, however, misinterpretation of the clinical and EEG presentation may lead to errors in management.
Temporal lobe epilepsy? Things are not always what they seem
Authors: Doležalová Irena , Brázdil Milan , Kahane Philippe
Published: August 2019

Temporal lobe epilepsy is the most frequent form of drug‐resistant epilepsy referred to epilepsy surgery centres. The vast majority of lesional cases can be operated on without invasive investigation which is often not the case for non‐lesional cases. Invasive investigation in non‐lesional cases, however, may lead to unexpected results, as illustrated in the following case report. [Published with video sequence on www.epilepticdisorders.com]
Epileptic spasms in paediatric post‐traumatic epilepsy at a tertiary referral centre
Authors: Park Jun T. , Chugani Harry T.
Published: August 2019

Aim. To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non‐accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES.

Methods. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post‐traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology.

Results. Six (12.8%) of the 47 patients diagnosed with post‐traumatic epilepsy (PTE) had ES. Epileptic spasms occurred between two months to two years after TBI. All patients with ES had multiple irritative zones, manifesting as multifocal epileptiform discharges, unilateral or bilateral. Cognitive delay and epileptic encephalopathy were seen in all six patients, five of whom were free of spasms after treatment with vigabatrin or adrenocorticotropic hormone.

Conclusion. The risk of PTE is 47/321(14.6%) and the specific risk of ES after TBI is 6/321 (1.8%). The risk of ES appears to be high if the age at which severe TBI occurred was during infancy. Non‐accidental head trauma is a risk factor of epileptic spasms. While posttraumatic epilepsy (not ES) may start 10 years after the head injury, ES starts within two years, according to our small cohort. The pathophysiology of ES is unknown, however, our data support a combination of previously proposed models in which the primary dysfunction is a focal or diffuse cortical abnormality, coupled with its abnormal interaction with the subcortical structures and brainstem at a critical maturation stage.
Adjunctive lacosamide for focal epilepsy: an open‐label trial evaluating the impact of flexible titration and dosing on safety and seizure outcomes
Authors: Baulac Michel , Coulbaut Safia , Doty Pamela , McShea Cindy , De Backer Marc , Bartolomei Fabrice , Vlaicu Mihaela
Published: August 2019

Aims. To evaluate the safety and effectiveness of lacosamide in a real‐life setting with the use of a flexible dose titration schedule and individualised maintenance doses up to the maximum approved dose of 400 mg/day.

Methods. Adults with a diagnosis of focal seizures, with or without secondary generalization, were enrolled in this open‐label Phase IV trial (NCT01235403). Lacosamide was initiated at 100 mg/day (50 mg bid) and uptitrated over a 12‐week period to 200, 300 or 400 mg/day, based on safety and seizure control. Although dose increases were to be in increments of 100 mg/day, intermediate doses were permitted at each escalation step for one week for patients known to be particularly sensitive to starting new AEDs. After receiving a stable, effective dose for three weeks, patients entered the 12‐week maintenance period. Primary outcomes were incidence of treatment‐emergent adverse events (TEAEs) and withdrawal due to TEAEs. Seizure outcomes, all secondary, were median focal seizure frequency, ≥50% reduction in focal seizure frequency, and seizure freedom.

Results. One hundred patients with a mean age of 44 years were enrolled and 74 completed the trial. The incidence of TEAEs was 64.0% (n=100), with the most frequently reported (≥5% of patients) being dizziness, headache, and asthenia. Fourteen patients withdrew due to TEAEs, most frequently due to dizziness (six patients; 6.0%), vomiting (two patients; 2%), and tremor (two patients; 2%). Among patients with baseline and maintenance phase seizure data (n=75), median reduction in focal seizure frequency from baseline was 69.7% and the ≥50% responder rate was 69.3%. Among 74 patients who completed the maintenance phase, 21 (28.4%) were seizure‐free.

Conclusion. Flexible lacosamide dosing in this open‐label trial was associated with a favourable tolerability and safety profile; the nature of the TEAEs was consistent with that observed in previous pivotal trials. Treatment with lacosamide was also associated with effective seizure control.
The semiology of benign focal epilepsy with affective symptoms
Authors: Nascimento Fábio A. , Sotero de Menezes Márcio A. , Simão Cristiane A. , Takeshita Bruno T. , Blattes da Rocha Samanta F. , Kowacs Pedro A.
Published: August 2019

Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by “epileptic attacks with affective symptoms of a terrifying type”. Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video‐EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9‐year‐old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness. These seizures were often secondary generalized, and he had multiple episodes of convulsive status epilepticus. He has been seizure‐free for the past year and a half on dual antiepileptic therapy with sulthiamine and valproate. His intellectual and social abilities are excellent (IQ of 116), although he does have difficulties particularly in language learning, and was recently diagnosed with phonological dyslexia with dysorthography. By presenting our patient's history and video‐EEG, we intend to further detail the semiology of seizures with affective symptomatology. [Published with video sequence on www.epilepticdisorders.com]
Epilepsy after cerebral infection: review of the literature and the potential for surgery
Authors: Ramantani Georgia , Holthausen Hans
Published: August 2019

The risk of unprovoked seizures in population‐based cohorts of cerebral infection survivors is 7–8% in developed countries, rising to considerably higher rates in resource‐poor countries. The main risk factors for epilepsy after cerebral infection, besides acute seizures, are infection‐associated brain lesions and status epilepticus during the acute phase. Despite the high prevalence of pharmacoresistant epilepsies after cerebral infections, especially in patients with MRI‐identifiable lesions, only a small minority undergoes epilepsy surgery. However, excellent surgical candidates are particularly those with a history of meningitis or encephalitis in early childhood, hippocampal sclerosis on MRI, as well as a history, seizure semiology, and EEG‐findings compatible with the diagnosis of a mesial temporal lobe epilepsy syndrome. More challenging are patients with neocortical/extratemporal lobe epilepsies post cerebral infection. Finally, patients with a severe hemispheric injury with contralateral hemiparesis are candidates for hemispherectomy/hemispherotomy. This review attempts to shed some light on this frequent cause of symptomatic focal epilepsy, with an emphasis on the chances offered by epilepsy surgery.
Focal epilepsy with paroxysmal pain due to somatic injury
Authors: Yu Tao , Liu Chang , Zhang Guojun , Qiao Liang , Ni Duanyu , Wang Yuping , Li Yongjie
Published: August 2019

We present two cases with paroxysmal pain that developed after a somatic injury to the trunk. The main characteristic of the episodes was paroxysmal severe pain, mainly located in the original region of somatic injury, with ipsilateral tonic or dystonic behaviour. The clinical characteristics supported a diagnosis of focal epilepsy. Both scalp EEG and MEG findings suggested epileptic activities on the contralateral central cortex. The focal seizures had a good response to antiepileptic drugs. It is hypothesized that peripheral somatic injuries can modify cortical excitability and lead to plastic changes in the sensory/motor cortex, ultimately resulting in focal seizures. We provide additional evidence for the phenomenon that a peripheral somatic injury could induce focal epilepsy. [Published with video sequence on www.epilepticdisorders.com]