bluuebunny/crossref_metadata_2025 huggingface dataset:
Epileptic diaphragm myoclonus
Authors: Hahn Andreas , Neubauer Bernd A
Published: August 2019

Persistent singultus is a rare condition, occasionally caused by central nervous system abnormalities. We report a six‐year‐old girl with daily hiccup events. A polygraphic recording capturing nine singultus episodes showed myoclonia of the diaphragm lasting 104‐131 milliseconds, time‐locked to bilateral, synchronous, double‐spike‐and‐wave discharges, maximum at frontal contacts. The initial EEG spikes preceded the onset of EMG discharges by 56‐64 (median: 59) milliseconds. This is the first description of an epileptic patient with hiccups as the main seizure manifestation. The electrophysiological findings suggest a primary generalised form of epilepsy and polysynaptic impulse transmission. [Published with video sequences]
EEG features of nonconvulsive status epilepticus
Authors: Brigo Francesco
Published: August 2019

Nonconvulsive status epilepticus (NCSE) is diagnosed in practice as an enduring epileptic condition with reduced or altered consciousness, but without major convulsive movements, and epileptiform discharges on EEG. In this article, an illustrative and paradigmatic case is presented with a focus on the main EEG features which should be considered when there is clinical suspicion of NCSE. Some clinical and neurophysiological tips are also provided in order to effectively differentiate between NCSE and other conditions. The clinical suspicion of NCSE may be supported by EEG recordings showing rhythmic and dynamic epileptiform activity. However, although a definitive diagnosis of NCSE cannot be made without EEG‐based evidence, the “ultimate diagnosis” of NCSE relies on both neurophysiological and clinical features.
Gastaut type idiopathic childhood occipital epilepsy
Authors: Ferrari‐Marinho Taissa , Macedo Eugenia Fialho , Neves Rafael Scarpa Costa , Costa Lívia Vianez , Tudesco Ivanda SS , Carvalho Kelly C , Carrete Henrique , Caboclo Luis Otavio , Yacubian Elza Marcia , Hamad Ana Paula
Published: August 2019

Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non‐visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation‐off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms and sudden appearance of low‐voltage, occipital, fast rhythm and/or spikes. Despite well described clinical and EEG patterns, to our knowledge, there are very few reports in the literature with video‐EEG recording of either seizure semiology or fixation‐off phenomena. We present a video‐EEG recording of a 12‐year‐old girl with Gastaut type epilepsy, illustrating the interictal and ictal aspects of this syndrome. Our aim was to demonstrate the clinical and neurophysiological pattern of a typical seizure of Gastaut type epilepsy, as well as the fixation‐off phenomena, in order to further clarify the typical presentation of this syndrome. [Published with video sequences]
Corpus callosotomy in a patient with startle epilepsy
Authors: Gómez Nicolás Garófalo , Hamad Ana Paula , Marinho Murilo , Tavares Igor M , Carrete Henrique , Caboclo Luís Otávio , Yacubian Elza Márcia , Centeno Ricardo
Published: August 2019

Startle epilepsy is a syndrome of reflex epilepsy in which the seizures are precipitated by a sudden and surprising, usually auditory, stimulus. We describe herein a girl who had been suffering with startle‐induced seizures since 2 years of age. She had focal, tonic and tonic‐clonic seizures, refractory to antiepileptic treatment. Daily tonic seizures led to very frequent falls and morbidity. Neurologically, she had no deficit. Interictal EEG showed slow waves and epileptiform discharges in central and fronto‐central regions. Video‐polygraphic recordings of seizures, triggered by stimuli, showed generalised symmetric tonic posturing with ictal EEG, characterised by an abrupt and diffuse electrodecremental pattern of fast activity, followed by alpha‐theta rhythm superimposed by epileptic discharges predominantly over the vertex and anterior regions. Magnetic resonance imaging showed no abnormalities. Corpus callosotomy was performed when the patient was 17. Since surgery, the patient (one year follow‐up) has remained seizure‐free. Corpus callosotomy may be considered in patients with startle epilepsy and tonic seizures, in the absence of focal lesions amenable to surgery. [Published with video sequences]
SISCOM and FDG‐PET in patients with non‐lesional extratemporal epilepsy: correlation with intracranial EEG, histology, and seizure outcome
Authors: Kudr Martin , Krsek Pavel , Marusic Petr , Tomasek Martin , Trnka Jiri , Michalova Katerina , Jaruskova Monika , Sanda Jan , Kyncl Martin , Zamecnik Josef , Rybar Jan , Jahodova Alena , Mohapl Milan , Komarek Vladimir , Tichy Michal
Published: August 2019

Aims. To assess the practical localising value of subtraction ictal single‐photon emission computed tomography (SISCOM) coregistered with MRI and 18F‐fluorodeoxyglucose positron emission tomography (FDG‐PET) in patients with extratemporal epilepsy and normal MRI. Methods. We retrospectively studied a group of 14 patients who received surgery due to intractable epilepsy and who were shown to have focal cortical dysplasia, undetected by MRI, based on histological investigation. We coregistered preoperative SISCOM and PET images with postoperative MRI and visually determined whether the SISCOM focus, PET hypometabolic area, and cerebral cortex, exhibiting prominent abnormalities on intracranial EEG, were removed completely, incompletely, or not at all. These results and histopathological findings were compared with postoperative seizure outcome. Results. Two patients underwent one‐stage multimodal image‐guided surgery and the remaining 12 underwent long‐term invasive EEG. SISCOM findings were localised for all but 1 patient. FDG‐PET was normal in 3 subjects, 2 of whom had favourable postsurgical outcome (Engel class I and II). Complete resection of the SISCOM focus (n=3), the area of PET hypometabolism (n=2), or the cortical regions with intracranial EEG abnormalities (n=7) were predictive of favourable postsurgical outcome. Favourable outcome was also encountered in: 4 of 8 patients with incomplete resection and 1 of 2 with no resection of the SISCOM focus; 4 of 7 patients with incomplete resection and 1 of 2 with no resection of the PET hypometabolic area; and 2 of 7 patients with incomplete resection of the area corresponding to intracranial EEG abnormality. No correlation between histopathological FCD subtype and seizure outcome was observed. Conclusion. Complete resection of the dysplastic cortex localised by SISCOM, FDG‐PET or intracranial EEG is a reliable predictor of favourable postoperative seizure outcome in patients with non‐lesional extratemporal epilepsy.
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation
Authors: Fabbri Margherita , Marini Carla , Bisulli Francesca , Di Vito Lidia , Elia Antonio , Guerrini Renzo , Mei Davide , Tinuper Paolo
Published: August 2019

Background

Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements.

Methods

We describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia.

Results

Paroxysmal kinesigenic dyskinesia manifested as brief choreoathetosic‐dystonic attacks precipitated by sudden movements, varying in severity and frequency, amongst the four affected family members. The disorder follows an autosomal dominant transmission and affects female members. Mutation of SLC2A1, MR1, CACNA1A, and ATP1A2 genes was excluded by direct sequencing. Mutation analysis of the PRRT2 gene revealed a single nucleotide duplication, c.649dupC, resulting in the frameshift mutation p.Arg217Profs*8 in all affected members.

Conclusion

Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. We describe a family with paroxysmal kinesigenic dyskinesia associated with PRRT2 gene mutation, mild intrafamilial clinical heterogeneity, and benign course. [Published with video sequences]
Episodes of loss of consciousness in a patient with a background of cerebral venous thrombosis
Authors: García María Eugenia García , Morales Irene García , Fernández José María Serratosa , Giráldez Beatriz González , Sacoto Daniela Dicapua , Bengoechea Paloma Balugo
Published: August 2019

Episodes of loss of consciousness are common, even in young, healthy people, and can sometimes represent a diagnostic challenge. The main diagnoses to consider are syncope and epileptic seizures, both of which may have similar symptomatology such as dizziness, loss of consciousness, falls, or “convulsive” phenomena. We present the case of a young male patient with a background of two venous thrombosis episodes (superior vena cava thrombosis and cerebral venous thrombosis), attributed to protein C and S deficiency and complicated by high intracranial pressure. A lumboperitoneal shunt was performed and anticoagulant therapy was initiated. He did not experience any medical problems until several years later, when he suddenly began to develop frequent, repetitive, transient episodes of dizziness, followed by loss of consciousness. Simultaneous video‐EEG and ECG performed during these events showed a typical pattern normally observed during syncope. Due to the absence of changes in heart rate or blood pressure, and taking into account his medical history, intracranial hypertension was considered as a possible cause of cerebral hypoperfusion. Cerebral arteriography demonstrated chronic thrombosis of all the cerebral sinuses, and the lumbar puncture an intracranial pressure of 47 mm Hg. The lumboperitoneal shunt was replaced and the patient has since not presented with any episodes. The use of simultaneous video‐EEG and ECG is a reliable and efficient approach to differentiate between syncope and seizure and in this case, was the key to finding the cause of these episodes. [Published with video sequences]
Experiential auditory hallucinations due to chronic epileptic discharges after radiotherapy for oligoastrocytoma
Authors: Sasaki Takeshi , Kodaka Fumitoshi , Taniguchi Go , Nishikawa Toru , Watanabe Masako
Published: August 2019

Experiential auditory hallucinations have been reported in patients with epilepsy. We report the case of a 46‐year‐old woman with a history of more than three years of experiential auditory hallucinations caused by chronic epileptic discharges, which developed after radiotherapy for an oligoastrocytoma in the left temporal lobe. Electroencephalography revealed frequent spikes in the left temporal lobe. In response to clonazepam, but not antipsychotics, her auditory hallucinations almost completely disappeared and spikes were reduced. Her auditory hallucinations exhibited the characteristics of first‐rank symptoms of schizophrenia, however, the content of experiential auditory hallucinations endured by our patient suggested an epileptic origin. We believe that the persistent subictal discharges, in combination with hyperexcitability of the temporal neocortex near radiation‐induced necrotic lesions, were the cause of the auditory hallucinations.
Successful surgical resection in non‐lesional operculo‐insular epilepsy without intracranial monitoring
Authors: Chiosa Vitalie , Granziera Cristina , Spinelli Laurent , Pollo Claudio , Roulet‐Perez Eliane , Groppa Stanislav , Seeck Margitta
Published: August 2019

Pre‐operative assessment and surgical management of patients with non‐lesional extratemporal epilepsy remain challenging due to a lack of precise localisation of the epileptic zone. In most cases, invasive recording with depth or subdural electrodes is required. Here, we describe the case of 6.5‐year‐old girl who underwent comprehensive non‐invasive phase I video‐EEG investigation for drug‐resistant epilepsy, including electric source and nuclear imaging. Left operculo‐insular epilepsy was diagnosed. Post‐operatively, she developed aphasia which resolved within one year, corroborating the notion of enhanced language plasticity in children. The patient remained seizure‐free for more than three years.
The clinical outcome of adjuvant therapy with black seed oil on intractable paediatric seizures: a pilot study
Authors: Shawki May , Wakeel Lamia El , Shatla Rania , EL‐Saeed Gamila , Ibrahim Samira , Badary Osama
Published: August 2019

Aim

To evaluate the effect of black seed oil, as add‐on treatment to antiepileptic drugs (AEDs), on seizure frequency and severity as well as oxidative stress in intractable epilepsy patients.

Methods

A prospective, randomised, single‐blinded, controlled, crossover pilot study. Five healthy children were included as controls. Thirty intractable epileptic children were randomly assigned to either Group I or II. Group I received placebo for four weeks, followed by a two‐week washout period, and subsequently black seed oil for four weeks. Group II received the same intervention but in the reverse order. All patients received AEDs throughout the study period. Prior to allocation, all patients underwent a neurological assessment and evaluation of oxidative stress markers; total antioxidant capacity (TAC) and malondialehyde (MDA). Patients were assessed at Weeks 4 and 10 for oxidative stress markers and seizure frequency and severity.

Results

At baseline, both groups (I, II) had significantly lower serum TAC levels relative to healthy controls (p=0.007), while MDA levels were unchanged. After the 4‐week period of black seed oil administration, there was no significant difference between the two groups with regards to seizure frequency, severity, or oxidative stressmarkers (TAC and MDA; p>0.05). Eight patients had >50% reduction in seizure frequency/severity after black seed oil versus placebo.

Conclusion

Children with intractable epilepsy show evidence of oxidative stress. Administration of 40‐80 mg/kg/day of black seed oil as add‐on therapy did not alter either oxidative stress markers or seizure frequency or severity in intractable epileptic patients.
The association between CCL2 polymorphisms and drug‐resistant epilepsy in Chinese children
Authors: He Xuelian , Li Ying , Liu Zhisheng , Yue Xin , Zhao Peiwei , Hu Jiasheng , Wu Gefei , Mao Bing , Sun Dan , Zhang Huanian , Song Xinwen , Wang Yang , Shao Jianbo
Published: August 2019

The treatment of drug‐resistant epilepsy remains a major challenge, affecting approximately 30% of epilepsy patients. More recently, immunity and inflammation are considered to be key elements of epilepsy. Targeting brain inflammation may represent a novel therapeutic strategy for epilepsy and refractory epilepsy. In this study, we investigated the association of a tag SNP of the CCL2 gene, rs1024611 (originally designated as ‐2578G>A or ‐2518G>A) with drug‐resistant epilepsy in Chinese children with epilepsy. We enrolled 484 epilepsy patients, including 98 drug‐resistant patients and 386 drug‐responsive patients. The rs1024611 was genotyped by PCR‐RPLP. The rs1024611 AA genotype was associated with a greater susceptibility to drug‐resistant epilepsy (p=0.008; OR=2.51, 95% CI: 1.33‐4.72), adjusted for age, sex, and seizure type, and the association remained significant after Bonferroni correction for multiple testing (p<0.05). Our results demonstrate that the CCL2 genetic polymorphism is associated with drug‐resistant epilepsy in Chinese paediatric patients.
Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome
Authors: Kapina Viktoria , Vargas Maria‐Isabel , Wohlrab Gabriele , Vulliemoz Serge , Fluss Joel , Seeck Margitta
Published: August 2019

Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented with focal complex seizures and cerebral MRI showed posterior encephalopathy and no hippocampal sclerosis. MRI after one month confirmed the diagnosis of PRES. The seizures recurred and the girl developed pharmacoresistant epilepsy and was admitted to our hospital for further investigation. Cerebral MRI three years after the diagnosis of PRES showed hippocampal sclerosis which was not present on the initial MRI. We conclude that there is a triggering role of PRES in the development of hippocampal sclerosis. Hippocampal sclerosis may have resulted from seizure‐associated damage, alternatively, hypertensive encephalopathy may have led to hippocampal damage via a vascular mechanism.
Severe cardioinhibitory vasovagal syncope in sleep and supine posture
Authors: Xu Zheyu , Bower Simon , Seneviratne Udaya
Published: August 2019

Severe cardioinhibitory vasovagal syndrome is characterised by syncope accompanied by cardiac asystole which may lead clinically to seizure‐like motor activity. Vasovagal syncope usually occurs in erect posture and is often provoked by emotional or physical triggers. We report two patients who presented with severe cardioinhibitory vasovagal syncope accompanied by cardiac asystole resulting in seizure‐like motor manifestations in sleep and supine posture. Both cases were initially diagnosed as epilepsy and treated with antiepileptic drugs. We discuss the putative mechanisms of this rare condition and its potential for misdiagnosis as epilepsy. [Published with video sequences]
Dyskinesia as a new adverse effect of hormonal treatment in West syndrome
Authors: Sukhudyan Biayna G. , Dimova Petia S. , Capuano Alessandro , Vigevano Federico
Published: August 2019

West syndrome is an age‐dependent epileptic encephalopathy. Despite potential side effects, hormonal therapy remains the main treatment for West syndrome. Here, we report on 10 patients receiving steroid treatment who presented with unusual, mostly hyperkinetic, movements. Facial grimacing, repetitive mouth opening, adduction and abduction of upper and lower extremities, and periodical strabismus in different combinations were observed in all patients, independent of formulation, dose, duration, and efficacy of treatment. Symptoms disappeared in sleep and reappeared immediately on arousal. Dyskinesias stopped gradually after a month of discontinuation of treatment. Repeated EEGs did not show corresponding epileptiform activity. We conclude that these abnormal movements can be attributed to side effects of hormonal treatment. [Published with video sequences]
Sensory stimulus‐sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency
Authors: Toelle Sandra P , Wille David , Schmitt Bernhard , Scheer Ianina , Thöny Beat , Plecko Barbara
Published: August 2019

Loss‐of‐function mutations in the FOLR1 gene (MIM *136430), encoding the folate receptor alpha, impair cerebral folate transport and lead to a progressive neurometabolic disorder. We report on a 5‐year‐old boy with progressive ataxia, from the age of 2 years and 6 months, with myoclonic jerks, regression, and impressive myoclonic tonic spasms with drop attacks, which were partially provoked by touching his face or washing his hands. Delayed myelination and cerebellar atrophy on cranial MRI were important clues to the diagnosis of cerebral folate transport deficiency, which was confirmed by homozygosity for the known nonsense mutation p.R204X in the FOLR1 gene. Computed tomography taken after head injury revealed bilateral calcifications in the basal ganglia as a novel finding in a patient with FOLR1 mutation. [Published with video sequences]
Mesial temporal extraventricular neurocytoma: a rare cause of refractory complex partial seizure
Authors: Feng Rui , Hu Jie , Wu Jinsong , Lang Liqin , Wang Bei , Bi Haixia , Gu Xin , Guo Jun , Pan Li
Published: August 2019

Aim. Mesial temporal extraventricular neurocytoma (mtEVN) is a rare cause of refractory complex focal seizures. The characteristics of this clinical entity are discussed in this article. Methods. We report two cases of mtEVN and review the related literature, with particular emphasis on radiological characteristics, clinical features, and operative techniques. Results. After successful surgery, our two cases of mtEVN achieved excellent outcome. Including the cases presented here, a total of three cases of mtEVNs and 11 of neocortical temporal extraventricular neurocytoma (ntEVNs) are reported in the literature. mtEVNs are distinct from ntEVNs with regards to demographics, aetiology, radiological features, and operative techniques. Conclusion. mtEVNs and ntEVNs exhibit distinguishing features. Under electrocorticographic monitoring, tailored resection of the neocortical epileptogenic focus, as well as the entire tumour and mesial temporal structures, can yield excellent outcome and satisfactory seizure control.
EEG‐confirmed epileptic activity in a cat with VGKC‐complex/LGI1 antibody‐associated limbic encephalitis
Authors: Pakozdy Akos , Glantschnigg Ursula , Leschnik Michael , Hechinger Harald , Moloney Teresa , Lang Bethan , Halasz Peter , Vincent Angela
Published: August 2019

A 5‐year‐old, female client‐owned cat presented with acute onset of focal epileptic seizures with orofacial twitching and behavioural changes. Magnetic resonance imaging showed bilateral temporal lobe hyperintensities and the EEG was consistent with ictal epileptic seizure activity. After antiepileptic and additional corticosteroid treatment, the cat recovered and by 10 months of follow‐up was seizure‐free without any problem. Retrospectively, antibodies to LGI1, a component of the voltage‐gated potassium channel‐complex, were identified. Feline focal seizures with orofacial involvement have been increasingly recognised in client‐owned cats, and autoimmune limbic encephalitis was recently suggested as a possible aetiology. This is the first report of EEG, MRI and long‐term follow‐up of this condition in cats which is similar to human limbic encephalitis.
Novel neurofibromatosis type 2 mutation presenting with status epilepticus
Authors: DiFrancesco Jacopo C. , Sestini Roberta , Cossu Federica , Bolognesi Martino , Sala Elena , Mariani Silvana , Saracchi Enrico , Papi Laura , Ferrarese Carlo
Published: August 2019

Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour‐suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. In this patient, we identified the novel c.428_430delCTTdel mutation in NF2, involving the amino‐terminal FERM domain, which is fundamental for the correct tumour suppressor function of the protein. Bioinformatic analyses revealed an important structural perturbation of the FERM domain, with a predicted impairment of the anti‐tumour activity.
Peri‐ictal headache due to epileptiform activity in a disconnected hemisphere
Authors: Vydrova Rosa , Kršek Pavel , Kyncl Martin , Jahodova Alena , Dvorak Josef , Komarek Vladimir , Delalande Olivier , Tichy Michal
Published: August 2019

A 4‐year‐old girl with intractable epilepsy due to left‐side hemispheric cortical dysplasia underwent a hemispherotomy. She was seizure‐free after the surgery. EEG showed persistent abundant epileptiform activity over the left (disconnected) hemisphere, including ictal patterns that neither generalised nor had clinical correlates. Antiepileptic medication was completely withdrawn four years following the surgery. One week after the withdrawal, she developed episodes of intense left‐sided hemicranias (ipsilateral to the surgery) with vomiting and photophobia that did not resemble her habitual seizures and were unresponsive to non‐steroidal anti‐inflammatory drugs. Video‐EEG showed association of the headache attacks with ictal patterns over the disconnected hemisphere. Brain MRI revealed increased signal changes in the left hemisphere. Attacks responded promptly to i.v. midazolam and carbamazepine at a low dose. Mechanisms underlying peri‐ictal headache originating in the disconnected hemisphere are discussed. [Published with video sequences]
Gelastic seizures with dancing arising from the anterior prefrontal cortex
Authors: Neilson John , Snyder Tom , Pugh Jeff , Wheatley Matt , Tang‐Wai Richard
Published: August 2019

Aim. This case report provides insight into the function of the anterior prefrontal cortex (aPFC), specifically Brodmann Area 10 (BA10), and its interconnectivity. Method. We present a 10‐year‐old patient with lesional epilepsy and ictal onset, localised to BA10 in the aPFC. Results. Thirty‐four seizures were recorded. All seizures involved a demonstration of elation with laughter that was associated with a variety of different patterns of complex motor behaviour that included performing specific celebratory movements and acting out a Michael Jackson dance move. Electrographically, the seizures were all stereotyped and arose from the right frontal region, followed by a distinct left temporal ictal rhythm that corresponded with the onset of the behaviours. The lesion in the right aPFC was identified as a mixed lesion with both dysembryoplastic neuroepithelial tumour cells and type II cortical dysplasia. Conclusion. The electrographic analysis and unique seizure semiology suggest a connection between the aPFC and the contralateral temporal lobe. This neural pathway appears to be involved in the activation of previously formed procedural memories, creating an intensely positive emotional experience.
Unusual presentation of hypothalamic hamartoma with hypersomnia in an adult patient
Authors: Tezer F. Irsel , Pektezel Mehmet Yasir , Gocmen Rahsan , Saygi Serap
Published: August 2019

We report a patient with polysomnography findings related to hypersomnia, as a primary presenting symptom, who was shown to have stereotypical gelastic seizures. Her cranial magnetic resonance imaging revealed a hypothalamic hamartoma in the posterior region of the hypothalamus. The patient had no previous history of gelastic seizures. We suggest that patients who present with hypersomnia should be investigated for gelastic seizures in order to avoid misdiagnosis and receive appropriate treatment.
Valproate‐induced reversible sensorineural hearing loss: a case report with serial audiometry and pharmacokinetic modelling during a valproate rechallenge
Authors: Yeap Li‐Ling , Lim Kheng‐Seang , Lo Yoke‐Lin , Bakar Mohd Zukiflee Abu , Tan Chong‐Tin
Published: August 2019

Hearing loss has been reported with valproic acid (VPA) use. However, this is the first case of VPA‐induced hearing loss that was tested and confirmed with a VPA rechallenge, supported by serial audiometry and pharmacokinetic modelling. A 39‐year‐old truck driver with temporal lobe epilepsy was treated with VPA at 400 mg, twice daily, and developed hearing loss after each dose, but recovered within three hours. Hearing loss fully resolved after VPA discontinuation. Audiometry performed five hours after VPA rechallenge showed significant improvement in hearing thresholds. Pharmacokinetic modelling during the VPA rechallenge showed that hearing loss occurred at a level below the therapeutic range. Brainstem auditory evoked potential at three months after VPA discontinuation showed bilateral conduction defect between the cochlear and superior olivary nucleus, supporting a pre‐existing auditory deficit. VPA may cause temporary hearing threshold shift. Pre‐existing auditory defect may be a risk factor for VPA‐induced hearing loss. Caution should be taken while prescribing VPA to patients with pre‐existing auditory deficit.
Syndromes with very low risk of acute prolonged seizures
Authors: Bast Thomas
Published: August 2019

The provision of rescue medication is an important component in the treatment of epilepsy. An intervention within five to ten minutes in the case of an acute prolonged seizure may preserve the patient from status epilepticus (SE). However, the risk of convulsive SE (CSE) differs markedly between patients depending on individual factors. This report summarizes the literature on risk factors for CSE in children with epilepsy and adolescents, and discusses the hypothesis that some electroclinical syndromes engender a very low risk of CSE. The most important risk factor for SE is the history of a previous event. The longer a patient lives without SE, the lower the risk will be. CSE occurs significantly less frequently in idiopathic epilepsies compared to epilepsies with symptomatic or unknown aetiology. It is very rarely observed in patients with (non‐encephalopathic) idiopathic generalised epilepsies, i.e. childhood absence epilepsy or juvenile myoclonic epilepsy. However, non‐compliance or inappropriate treatment may trigger CSE in these syndromes. A very low risk can be assumed for children with Rolandic epilepsy, while CSE occurs in a considerable percentage of patients with Panayiotopoulos syndrome. Although the risk of CSE in otherwise normal children with cryptogenic focal epilepsy is uncertain, it is presumably low under successful continuous medication. In conclusion, the choice for or against the prescription of rescue medication remains an individual decision. Consequently, for several electroclinical syndromes, a per se provision of rescue medication does not appear justified.
Are febrile seizures an indication for intermittent benzodiazepine treatment, and if so, in which cases?
Authors: Camfield Peter , Camfield Carol
Published: August 2019

Febrile seizures occur in ∼4% of children. After a first febrile seizure, the risk of recurrence is ∼40%, but excellent studies document that febrile seizures do not cause brain damage or deficits in cognition or behaviour. The risk of subsequent epilepsy is 2–4%. Prolonged febrile seizures are of concern because a child may later develop mesial temporal sclerosis and intractable epilepsy in rare cases. Most prolonged febrile seizures represent the first febrile seizure and cannot be anticipated. A first prolonged febrile seizure does not increase the risk of recurrence, but if there is a recurrence, it is more likely to be prolonged. Prevention of recurrent febrile seizures is difficult. Antipyretics are ineffective. Daily AED treatment is not often justified. Intermittent oral diazepam at the time of illness is not very successful and has significant side effects. The most optimistic study found that the number of subjects required to treat in order to prevent one recurrence was 14. Intermittent clobazam has fewer side effects than diazepam and may be somewhat effective. Rescue benzodiazepines given outside health care facilities may be effective in selected patients to prevent prolonged recurrences, although this has not been proven with rectal diazepam which has been more extensively studied than buccal or nasal midazolam. Currently, we suggest that, for children with febrile seizures, candidates for consideration for rescue benzodiazepines are those with a prolonged febrile seizure or poor access to medical care. It is possible that the use of a rescue benzodiazepine may alleviate severe parental anxiety, but this remains to be established.
Treating acute seizures with benzodiazepines: does seizure duration matter?
Authors: Naylor David E.
Published: August 2019

Several clinical trials have shown improved seizure control and outcome by early initiation of treatment with benzodiazepines, before arrival in the emergency department and before intravenous access can be established. Here, evidence is provided and reviewed for rapid treatment of acute seizures in order to avoid the development of benzodiazepine pharmacoresistance and the emergence of self‐sustaining status epilepticus. Alterations in the physiology, pharmacology, and postsynaptic level of GABA‐A receptors can develop within minutes to an hour and hinder the ability of synaptic inhibition to stop seizures while also impairing the efficacy of GABAergic agents, such as benzodiazepines, to boost impaired inhibition. In addition, heightened excitatory transmission further exacerbates the inhibitory/excitatory balance and makes seizure control even more resistant to treatment. The acute increase in the surface expression of NMDA receptors during prolonged seizures also may cause excitotoxic injury, cell death, and other pathological expressions and re‐arrangements of receptor subunits that all contribute to long‐term sequelae such as cognitive impairment and chronic epilepsy. In conclusion, a short window of opportunity exists when seizures are maximally controlled by first‐line benzodiazepine treatment. After that, multiple pathological mechanisms quickly become engaged that make seizures increasingly more difficult to control with high risk for long‐term harm.
ILAE focal cortical dysplasia type IIIc in the ictal onset zone in epileptic patients with solitary meningioangiomatosis
Authors: Mukae Nobutaka , Suzuki Satoshi O , Morioka Takato , Murakami Nobuya , Hashiguchi Kimiaki , Shigeto Hiroshi , Sakata Ayumi , Iihara Koji
Published: August 2019

“Solitary” meningioangiomatosis (MA) is a rare, benign, hamartomatous lesion of the cerebral cortex and frequently leads to epilepsy. However, the source of the epileptogenicity in meningioangiomatosis remains controversial. We report two surgically‐treated meningioangiomatosis cases with medically intractable epilepsy. In both cases, chronic subdural electrocorticogram (ECoG) recordings identified the ictal onset zone on apparently normal cortex, adjacent to and/or above the meningioangiomatosis lesion, not on the meningioangiomatosis lesion itself. The ictal onset zone was resected, along with the MA lesion, and good seizure outcome was achieved. Histological examination of the ictal onset zone revealed the presence of ILAE focal cortical dysplasia (FCD) type IIIc. Our case studies suggest that in the surgical management of epilepsy with meningioangiomatosis, it is important to identify undetected, but epileptogenic, ILAE FCD Type IIIc, using preoperative multimodal examinations, including chronic ECoG recordings.
Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach‐Wiethe disease and review of the literature
Authors: Meletti Stefano , Cantalupo Gaetano , Santoro Francesca , Benuzzi Francesca , Marliani Anna Federica , Tassinari Carlo Alberto , Rubboli Guido
Published: August 2019

We describe the epilepsy features and emotion recognition abilities (recognition of basic facial emotions and recognition of emotional prosody) in a patient with Urbach‐Wiethe disease with bilateral amygdala calcifications. Our data, supported by ictal video‐EEG recording, indicated that our patient suffered from mesial temporal lobe epilepsy. Emotion recognition abilities were compared to those of healthy controls and those of patients with bilateral mesial temporal lobe epilepsy. Our patient showed a selective impairment of the recognition of facial expression of fear, whereas recognition of emotional prosody was preserved, in contrast to bilateral mesial temporal lobe epilepsy patients that presented with deficits in both domains. We also reviewed the literature on epilepsy in Urbach‐Wiethe disease (41 patients). Our findings suggest that in Urbach‐Wiethe disease, the circumscribed damage of both amygdalae results in a selective dysfunction of fearful face processing, in contrast to bilateral mesial temporal lobe epilepsy patients who present with a widespread and multimodal impairment in the judgement of emotional stimuli.
Bradycardia and asystole during generalised interictal EEG discharges
Authors: Sforza Emilia , Pichot Vincent , Gschwind Markus , Roche Frédéric , Maeder‐Ingvar Malin
Published: August 2019

Few studies have investigated the effects of interictal epileptic discharges on the cardiac autonomic system. This study reports the case of a 37‐year‐old man with refractory generalised epilepsy, who recently reported an increase in frequency of nocturnal tonic‐clonic seizures, not responding to treatment. During the nocturnal video study, in non‐rapid eye movements sleep, we recorded 106 generalised sharp‐ and polyspike‐waves lasting for 3 to 7 seconds, associated with bradycardia and asystole, without behavioural changes and without increase in deltoid muscle activity. The asystole had a duration of between 3 and 8 seconds. In one case, a 7 second asystole was associated with a tonic‐clonic generalised seizure. A 24‐hour electrocardiographic study revealed a bradycardia and a Wenckebach atrioventricular block. Heart rate analysis at the time of the interictal epileptic discharges revealed an abrupt increase in the RR interval, occurring simultaneously with the onset of interictal epileptic discharges and followed by a return to values below baseline value. A cardiac pacemaker was installed with a reduction of asystole length during the interictal epileptic discharges. Our findings indicate, for the first time, the role of interictal generalised discharges in EEG‐related asystole and bradycardia. These data support the hypothesis that some patients with epilepsy may be predisposed to disturbances of the autonomic cardiac system.
Non‐epileptic myoclonic attacks in infancy: three cases
Authors: Vignoli Aglaia , Giordano Lucio , Guerra Daniela , La Briola Francesca , Accorsi Patrizia , Savini Miriam Nella , Iodice Alessandro , Molinaro Anna , Canevini Maria Paola
Published: August 2019

Since the first cases of abnormal paroxystic movements in normal infants were described, the importance of accurate characterization of this medical condition has been increasingly confirmed in the literature. Non‐epileptic attacks mimic epileptic paroxysms in clinical presentation, but they have a typically benign course and are unresponsive to pharmacological treatment. An evident feature of the syndrome is its extreme variability in clinical manifestation. Here, we describe three normal infants with two similar forms of non‐epileptic paroxysms. Electroclinical manifestations and profile of evolution were investigated. Ictal video‐EEG polygraphic recordings were obtained for each patient. The increasing number of such reported clinical cases in the literature may contribute to high quality systematic reviews and the development of useful guidelines in the future. The clinical heterogeneity of non‐epileptic attacks, together with the relative rarity of the condition, may make differential diagnosis with epileptic attacks very challenging. [Published with video sequences]
Interactions between antiepileptic drugs, and between antiepileptic drugs and other drugs
Authors: Zaccara Gaetano , Perucca Emilio
Published: August 2019

Interactions between antiepileptic drugs, or between antiepileptic drugs and other drugs, can be pharmacokinetic or pharmacodynamic in nature. Pharmacokinetic interactions involve changes in absorption, distribution or elimination, whereas pharmacodynamic interactions involve synergism and antagonism at the site of action. Most clinically important interactions of antiepileptic drugs result from induction or inhibition of drug metabolism. Carbamazepine, phenytoin, phenobarbital and primidone are strong inducers of cytochrome P450 and glucuronizing enzymes (as well as P‐glycoprotein) and can reduce the efficacy of co‐administered medications such as oral anticoagulants, calcium antagonists, steroids, antimicrobial and antineoplastic drugs through this mechanism. Oxcarbazepine, eslicarbazepine acetate, felbamate, rufinamide, topiramate (at doses ≥200 mg/day) and perampanel (at doses ≥8 mg/day) have weaker inducing properties, and a lower propensity to cause interactions mediated by enzyme induction. Unlike enzyme induction, enzyme inhibition results in decreased metabolic clearance of the affected drug, the serum concentration of which may increase leading to toxic effects. Examples of important interactions mediated by enzyme inhibition include the increase in the serum concentration of phenobarbital and lamotrigine caused by valproic acid. There are also interactions whereby other drugs induce or inhibit the metabolism of antiepileptic drugs, examples being the increase in serum carbamazepine concentration by erythromycin, and the decrease in serum lamotrigine concentration by oestrogen‐containing contraceptives. Pharmacodynamic interactions between antiepileptic drugs may also be clinically important. These interactions can have potentially beneficial effects, such as the therapeutic synergism of valproic acid combined with lamotrigine, or adverse effects, such as the reciprocal potentiation of neurotoxicity observed in patients treated with a combination of sodium channel blocking antiepileptic drugs.
Training doctors in basic EEG: analysis of a learning tool relevant to resource‐limited settings
Authors: Kander Veena , Wilmshurst Jo M
Published: August 2019

Aim. Clinicians trained to interpret EEG in Africa are scarce. The region is challenged by inadequate access to healthcare professionals and a significant burden of disease, with the result that trained neurophysiologists and epileptologists may not be viewed as an immediate priority. However, approaches, specific to the African context, could be adopted to enable safe practice of basic EEG interpretation. Educational guidelines for the interpretation of paediatric studies, relevant to the region, are lacking. As a result, a handbook targeting this training need was developed and a pilot study undertaken to assess the efficacy of this tool to improve EEG‐reporting skills for clinicians at a basic level.

Methods. Eleven health practitioners, who manage children with epilepsy, from various African countries, were recruited. The group analysed selected EEGs before and after reading a training manual (the handbook). A survey was conducted on how useful the participants found the handbook.

Results. There was a trend (p<0.06) supporting improvement in the ability to analyse EEGs following reading of the handbook. The doctors who had one‐on‐one tutoring, in addition to access to the handbook, did significantly better in most EEG‐reporting variables (p<0.01).

Conclusions. The handbook was found to be a viable tool to promote EEG interpretation in the African setting, where foundation skills are needed. However, optimal outcomes were evident with additional individual tutoring, as well as on‐going support to maintain skills. This curriculum will be adapted into a post‐graduate qualification intended to generate clinicians with key basic EEG skills, but not fully trained electrophysiologists. Currently, in the African setting, for maximum impact on patient care, this approach is considered the most likely to have the furthest reach.
Epilepsia partialis continua of the abdominal muscles due to cerebrovascular disease
Authors: Ribeiro Joana Jesus , Sousa Mário , Teotónio Rute , Bento Conceição , Sales Francisco
Published: August 2019

Two elderly men, with previous history of cerebrovascular disease, were admitted to the emergency department due to focal motor status epilepticus with persistent myoclonic jerks of one side of the body. In both cases, the clinical picture evolved into a unilateral and isolated arrhythmic myoclonus of the abdominal muscles with preserved consciousness. These involuntary movements resolved with antiepileptic drugs. Although cerebrovascular disease is one of the most common causes of epilepsia partialis continua, reported cases in the literature with predominant abdominal involvement have a different aetiology. The neuroimaging and electroencephalographic findings showed a wide spectrum of different localizations and aetiologies associated with this particular type of epileptic seizure. Indeed, the pathophysiology of focal motor seizures involving the abdominal muscles is still a matter of discussion. In our second case, we present a patient with epilepsia partialis continua of the abdominal wall with an occipital focus, which, to the best of our knowledge, has not been previously reported. [Published with video sequences]
Incidence, prevalence and aetiology of seizures and epilepsy in children
Authors: Camfield Peter , Camfield Carol
Published: August 2019

Aim. To (1) summarize published, peer‐reviewed literature about the incidence and prevalence of epilepsy in children from developed and developing countries around the world, and (2) discuss problems in defining aetiologies of epilepsy in children, and distinguish between seizures and epilepsy.

Methods. Review of selected literature with particular attention to systematic reviews.

Results. The incidence of epilepsy in children ranges from 41–187/100,000. Higher incidence is reported from underdeveloped countries, particularly from rural areas. The incidence is consistently reported to be highest in the first year of life and declines to adult levels by the end of the first decade. The prevalence of epilepsy in children is consistently higher than the incidence and ranges from 3.2–5.5/1,000 in developed countries and 3.6–44/1,000 in underdeveloped countries. Prevalence also seems highest in rural areas. The incidence and prevalence of specific seizure types and epilepsy syndromes is less well documented. In population‐based studies, there is a slight, but consistent, predominance of focal seizures compared with generalized seizures. Only about one third of children with epilepsy can be assigned to a specific epilepsy syndrome, as defined by the most recently proposed system for organization of epilepsy syndromes.

Conclusions. The incidence and prevalence of epilepsy in children appears to be lower in developed countries and highest in rural areas of underdeveloped countries. The reasons for these trends are not well established. Although focal seizures predominate, the incidence and prevalence of specific epilepsy syndromes is not well documented.
Epilepsy of infancy with migrating focal seizures: three patients treated with the ketogenic diet
Authors: Caraballo Roberto , Noli Daniel , Cachia Pedro
Published: August 2019

Aim. We present three patients with epilepsy of infancy with migrating focal seizures treated with the ketogenic diet.

Methods. Between February 1, 2012 and January 31, 2014, three patients who met the diagnostic criteria for migrating focal seizures in infancy at our department were placed on the ketogenic diet and followed for a minimum of seven months.

Results. Two of the three children responded well to the ketogenic diet. One of these patients became seizure‐free and his neuropsychological performance also significantly improved. The other child had a seizure reduction of 75% to 99% with only weekly seizures and moderate psychomotor improvement. For these two patients who responded well to the ketogenic diet, hospital admission was not required. The remaining patient had a seizure reduction of less than 50%. Tolerability of the diet was good in all three patients.

Conclusion. Early treatment with the ketogenic diet should be considered for epilepsy of infancy with migrating focal seizures to control seizures and status epilepticus, and avoid progressive cognitive impairment.