bluuebunny/crossref_metadata_2025 huggingface dataset:
Os benefícios da alimentação vegetariana no diabetes mellitus tipo 2
Authors: Rosa Maria Julia Cauduro , Cuervo Maria Rita Macedo
Published: August 2019

Objetivo: O presente estudo tem como objetivo identificar os benefícios da alimentação vegetariana no diabetes mellitus tipo 2 (DM2). Materiais e Métodos: Foi realizada uma revisão integrativa da literatura utilizando as bases de dados Medline/Pubmed, LILACS e Google Acadêmico. Foram selecionados artigos publicados nos últimos 10 anos, em português, inglês e espanhol. Destes, foram identificados 4.370 artigos, dos quais 15 atenderam aos critérios de inclusão/ exclusão do estudo. Resultados: Os artigos analisados foram organizados nas categorias: ingestão dietética, na qual houve aumento do consumo de carboidratos e fibras, redução no consumo de proteínas e sem alterações significativas no consumo de gorduras, porém com redução no consumo de gorduras saturadas nos participantes dos grupos experimentais; peso corporal, com alguns artigos demonstrando a redução significativa no peso dos participantes que adotaram a dieta vegetariana estrita; controle glicêmico, com melhoria nos níveis de Hb1Ac dos que seguiram a dieta vegetariana estrita; lipídios plasmáticos menores; prevalência e incidência de DM2 menores entre vegetarianos. Conclusão: Conclui-se que as dietas vegetarianas (incluindo vegetarianas estritas), que se caracterizam pelo baixo teor de gordura saturada e maior consumo de carboidratos ricos em fibras, são eficazes para diminuir e controlar a glicemia plasmática, auxiliar no controle e redução de peso e no perfil lipídico em pacientes com DM2, oferecendo benefícios adicionais para as comorbidades da doença. O consumo de carboidratos complexos, de alimentos ricos em fibras, e a redução do consumo de gorduras saturadas tende a favorecer no controle, tratamento e prevenção do DM2. A prevalência e chances de desenvolver DM2 aumentam conforme a quantidade de alimentos de origem animal.
Exercício terapêutico associado à estimulação elétrica nervosa transcutânea reduz dor e aumenta funcionalidade em indivíduos com osteoartrite de joelho
Authors: Yamada Eloá Ferreira , Brito Fernanda Rosetti de Almeida , Buares Gabriela Pedrinha Nicolau , Gomes Isadora De Almeida , Zanetti Lorena Favoreto , Da Silva Morgana Duarte
Published: August 2019

Objetivo: Comparar o efeito das técnicas de Estimulação Elétrica Nervosa Transcutânea (TENS), exercício terapêutico e a associação de ambas sobre a dor, o tempo de caminhada, a força e a flexibilidade muscular, bem como a funcionalidade de indivíduos com osteoartrite (OA) de joelho. Materiais e Métodos: A pesquisa se caracteriza como ensaio clínico randomizado, prospectivo e cego. Participaram 36 pacientes, dos quais, 30 finalizaram o tratamento, e foram divididos em três grupos. O grupo 1 (G1) foi submetido à TENS; o grupo 2 (G2) ao exercício terapêutico e o grupo 3 (G3) à combinação das duas técnicas (TENS e exercício terapêutico). Foram realizadas dez sessões de tratamento, três vezes por semana. Foram avaliados: a escala visual analógica de dor; o tempo de caminhada em oito metros; o teste de uma repetição máxima; a medida da flexibilidade de cadeia posterior utilizando o banco de Wells e o Questionário Algofuncional de Lequesne. Resultados: Todos os grupos apresentaram redução significativa da dor (p<0,0001 em todos os grupos) e melhora funcional (p=0,0018 no G1, p=0,0003 no G2 e p=0,0078 no G3). Os grupos de pacientes tratados com exercícios terapêuticos e com a associação das técnicas apresentaram incremento na força muscular e na flexibilidade. Conclusão: A utilização da TENS pode auxiliar na redução da dor e no incremento da funcionalidade de pacientes com OA de joelho. Ainda, a realização de exercícios terapêuticos, associados ou não a TENS, reduziu a dor e aumentou a funcionalidade, bem como o ganho de força muscular de quadríceps.
Avaliação da percepção do tamanho de porções de alimentos proteicos
Authors: De Oliveira João Paulo Lima , Avelar Bárbara Andreata , De Oliveira Lívia Costa , De Abreu Wilson César
Published: August 2019

Introdução: A avaliação quantitativa do consumo de proteínas utilizando instrumentos como o recordatório de 24 horas e registro alimentar pode ser subestimada ou superestimada devido às falhas na estimativa do tamanho das porções de alimentos proteicos. Objetivo: Avaliar a percepção do tamanho das porções de alimentos proteicos. Materiais e Métodos: A amostra foi composta por 50 universitários que estimaram o tamanho das porções dos seguintes alimentos proteicos: bife bovino grelhado, carne bovina cozida em pedaços, carne bovina moída refogada, filé de peito de frango grelhado e frango cozido em cubos. Os alimentos foram dispostos em cabines individuais. Em cada cabine foi colocada uma porção média (100 g) do alimento em um prato raso. Resultados: O percentual de sujeitos que indicaram o tamanho exato das porções (médio) variou de 52,0 a 66,0%. A estimativa do tamanho médio das porções em gramas foi superestimada para todos os alimentos, especialmente para o bife bovino (174,5 g). Conclusão: Os resultados mostraram que maioria dos sujeitos estimou corretamente o tamanho das porções de alimentos proteicos categorizadas em pequena, media e grande, mas o percentual de sujeitos que estimou erroneamente é expressivo e pode afetar a qualidade dos dados sobre consumo de proteínas.
Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia
Authors: Blümcke Ingmar , Vinters Harry V. , Armstrong Dawna , Aronica Eleonora , Thom Maria , Spreafico Roberto
Published: August 2019

Structural brain abnormalities can be increasingly recognized in patients suffering from intractable focal epilepsies using high‐resolution imaging techniques. Epilepsy surgery has become a successful treatment option for many of these patients. A broad spectrum of malformations of cortical development (MCD) can be histopathologically identified in resective surgical brain samples. Here, we discuss neuropathological findings and available classification systems in children and adult patients. Particular emphasis will be paid to the classification system for focal cortical dysplasias (FCD), which can be histopathologically distinguished as type I and II. Also mild forms of cortical malformations (mMCD) may be present, including heterotopic neurons in white matter location. However, different cohorts of epilepsy patients may present with similar histopathological findings and clinico‐pathological correlations are not always comparable with respect to outcome prediction. We will, therefore, discuss also the difficulties to classify some FCD variants. Notwithstanding, the underlying pathomechanisms in all FCD entities need to be specified. A comprehensive approach taking all currently available data into consideration will be mandatory to further develop our current understanding of FCDs, and to continuously improve our concept for a reliable classification system.
Basic mechanisms of MCD in animal models
Authors: Battaglia Giorgio , Becker Albert J. , LoTurco Joseph , Represa Alfonso , Baraban Scott C. , Roper Steven N. , Vezzani Annamaria
Published: August 2019

Epilepsy‐associated glioneuronal malformations (malformations of cortical development [MCD]) include focal cortical dysplasias (FCD) and highly differentiated glioneuronal tumors, most frequently gangliogliomas. The neuropathological findings are variable but suggest aberrant proliferation, migration, and differentiation of neural precursor cells as essential pathogenetic elements. Recent advances in animal models for MCDs allow new insights in the molecular pathogenesis of these epilepsy‐associated lesions. Novel approaches, presented here, comprise RNA interference strategies to generate and study experimental models of subcortical band heterotopia and study functional aspects of aberrantly shaped and positioned neurons. Exciting analyses address impaired NMDA receptor expression in FCD animal models compared to human FCDs and excitatory imbalances in MCD animal models such as lissencephaly gene ablated mice as well as in utero irradiated rats. An improved understanding of relevant pathomechanisms will advance the development of targeted treatment strategies for epilepsy‐associated malformations.
Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations
Authors: Naasan Georges , Yabroudi Mohamad , Rahi Amal , Mikati Mohamad A.
Published: August 2019

Objective

Pyridoxine‐dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE.

Materials and methods

EEG tracings from four patients fulfilling the clinical criteria for PDE were reviewed. Relative to the time of treatment with pyridoxine, EEG recordings were available before treatment in two patients (at ages four and 10 months), immediately after treatment in two patients and during long‐term follow‐up with treatment in all four patients.

Results

Pre‐pyridoxine interictal EEG findings included: diffuse slowing, bilateral independent multifocal epileptiform discharges, generalized bursts of polyspike slow waves and focal or generalized sharp waves. In addition, the EEG was often asymmetrical and included: generalized semi‐rhythmic sharp and slow waves, a burst suppression pattern and continuous generalized spike and slow waves. In one patient, who was followed subsequently, a decrease in multifocal spikes and sharp waves and permanent cessation of clinical seizures, within 10 minutes of concurrent reduction of spikes in the pre‐existing generalized spike slow wave pattern, was observed immediately after pyridoxine treatment. However, despite the clinical response in this patient we observed persistent generalized burst suppression for four days, and fluctuation of the EEG with diffuse slowing on day four and transient exacerbation of discharges with continuous spike slow waves on day 22. This was followed by intermittent sharp waves at eight and 20 months, mild slowing at 31 months and normal EEG at 43 months. Long‐term EEG findings in the other three patients receiving pyridoxine ranged between normal and intermittent multifocal sharp waves.

Conclusion

Our data confirm previous observations and provide the following new findings: (1) the presence of burst suppression pattern after cessation of seizures can occur for up to five days after initiation of pyridoxine and should not exclude the diagnosis of PDE, (2) possible fluctuation and even transient worsening of electrographic discharges were observed for up to three weeks after initiation of pyridoxine and (3) the abnormal EEG can persist for up to 43 months before normalizing (range 1‐43 months) and in other cases in which it continues to be abnormal it may still improve after increasing the dose of pyridoxine.
Zonisamide in West syndrome: an open label study
Authors: Yum Mi‐Sun , Ko Tae‐Sung
Published: August 2019

Aims

Infantile spasms are usually resistant to conventional anti‐epileptic drugs. Although adrenocorticotropic hormones or vigabatrin are regarded as standard agents for the treatment of infantile spasms, there are still limitations of their use. We determined the efficacy and tolerability of high‐dose zonisamide in patients with recent‐onset infantile spasms.

Methods

Seventeen patients with infantile spasms, who were admitted to our hospital between October 2005 and November 2007, were eligible for enrolment within two months of diagnosis. Zonisamide was administered at a starting dose of 2‐8 mg/kg/day, increasing by 2‐5 mg/kg/day every three to four days until the seizures disappeared or the dose reached 30 mg/kg/day. Complete response was defined as clinical cessation of infantile spasms over 28 consecutive days and disappearance of hypsarrhythmia by EEG analysis.

Results

Of the 17 treated patients (nine who received initial monotherapy and eight add‐on therapy), five of 12 (42.0%) cryptogenic patients and two of five (40.0%) symptomatic patients showed complete disappearance of spasms. The maximum daily dose was 10‐28 mg/kg, and the effective daily dose was 10‐22 mg/kg. Mean time period before disappearance of spasms and hypsarrhythmia was eight days. Seizure recurrence was observed in three of the seven patients who showed complete disappearance of spasms. Adverse effects included irritability in four patients and poor oral intake in two patients.

Conclusion

Although further study of zonisamide is warranted, high‐dose zonisamide can be effective and safe in some infants with newly diagnosed West syndrome.
Myoclonic status epilepticus in juvenile myoclonic epilepsy
Authors: Larch Julia , Unterberger Iris , Bauer Gerhard , Reichsoellner Johannes , Kuchukhidze Giorgi , Trinka Eugen
Published: August 2019

Background

Myoclonic status epilepticus (MSE) is rarely found in juvenile myoclonic epilepsy (JME) and its clinical features are not well described. We aimed to analyze MSE incidence, precipitating factors and clinical course by studying patients with JME from a large outpatient epilepsy clinic.

Methods

We retrospectively screened all patients with JME treated at the Department of Neurology, Medical University of Innsbruck, Austria between 1970 and 2007 for a history of MSE. We analyzed age, sex, age at seizure onset, seizure types, EEG, MRI/CT findings and response to antiepileptic drugs.

Results

Seven patients (five women, two men; median age at time of MSE 31 years; range 17‐73) with MSE out of a total of 247 patients with JME were identified. The median follow‐up time was seven years (range 0‐35), the incidence was 3.2/1,000 patient years. Median duration of epilepsy before MSE was 26 years (range 10‐58). We identified three subtypes: 1) MSE with myoclonic seizures only in two patients, 2) MSE with generalized tonic clonic seizures in three, and 3) generalized tonic clonic seizures with myoclonic absence status in two patients. All patients responded promptly to benzodiazepines. One patient had repeated episodes of MSE. Precipitating events were identified in all but one patient. Drug withdrawal was identified in four patients, one of whom had additional sleep deprivation and alcohol intake. Two patients received inappropriate treatment (carbamazepine, phenytoin).

Conclusions

MSE is a rare event in JME. Precipitating factors are commonly identified and for such cases the treatment response and outcome are excellent, in contrast to other cases with unknown causes.
Unexpected gamma glutamyltransferase rise increase during levetiracetam monotherapy
Authors: Broli Marcella , Provini Federica , Naldi Ilaria , Bisulli Francesca , Sama Claudia , Baruzzi Agostino , Tinuper Paolo , Riva Roberto
Published: August 2019

Levetiracetam is an antiepileptic drug (AED) with a favourable tolerability profile with little or no effect on liver function. We describe an epileptic patient who developed a significant increase in gamma glutamyltransferase (γGT) while on levetiracetam monotherapy.
Epidural and foramen‐ovale electrodes in the diagnostic evaluation of patients considered for epilepsy surgery
Authors: Beleza Pedro , Rémi Jan , Feddersen Berend , Peraud Aurelia , Noachtar Soheyl
Published: August 2019

Purpose

To evaluate the clinical utility of epidural and foramen‐ovale recordings and associated morbidity in the pre‐surgical evaluation of epilepsy.

Methods

We retrospectively analysed 59 epilepsy patients, who underwent recordings with epidural (n = 59) and foramen‐ovale electrodes (n = 46) as part of their pre‐surgical evaluation between 1990‐1999. The epidural and foramen‐ovale evaluation was based on the results of the non‐invasive EEG‐video recordings in patients, in whom non‐invasive evaluation failed to localise seizure onset (75%, 44 patients) or where EEG, and imaging studies were discrepant (25%, 15 patients) but allowed a testable hypothesis on the seizure onset zone.

Results

Most patients (n = 57) were evaluated between 1990‐1994. Only two patients were evaluated later. The results of the epidural (n = 559) and foramen‐ovale (n = 83) electrode recordings allowed us to proceed to resective epilepsy surgery in 31% (n = 18) and to exclude further invasive evaluation in 15% (n = 9) of the patients. In 49% (n = 29) of the patients the results guided further invasive recordings using subdural and/or depth electrodes. For only three patients no additional information was gained by the electrode recordings. Temporary morbidity included local infection (epidural; n = 1) and facial pain (foramen ovale; n = 1) but no permanent complication occurred.

Discussion

Epidural and foramen‐ovale electrodes have almost been abandoned in recent years, most likely because of the improvement of neuroimaging techniques such as MRI, PET and ictal SPECT. However, in selected patients, epidural electrodes and foramen‐ovale electrodes are either useful as a measure to avoid invasive evaluation or serve to guide invasive evaluation.
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma
Authors: Olivieri Ivana , Teutonico Federica , Orcesi Simona , Papalia Grazia , Uggetti Carla , Bastianello Stefano , Balottin Umberto , Veggiotti Pierangelo
Published: August 2019

Hypothalamic hamartoma is a rare developmental nonneoplastic malformation, often characterised by early onset gelastic seizures and later progressive cognitive and behavioural deterioration. In this case study, we have examined a child who presented with an atypical onset of benign paroxysmal gaze deviation between two to three months of age. The patient subsequently developed gelastic seizures at age 13. Based on the observation that hypothalamic hamartomas do not involve any functional region involved in eye motility, we speculate that both gaze deviation and gelastic seizures are a manifestation of the epileptogenic nature of the hypothalamic hamartoma. [Published with video sequences]
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
Authors: McMahon Jacinta M. , Scheffer Ingrid E. , Nicholl Jillian K. , Waters Wendy , Eyre Helen , Hinton Lyn , Nelson Paul , Yu Sui , Dibbens Leanne M. , Berkovic Samuel F. , Mulley John C.
Published: August 2019

Seizures often occur in patients with microchromosomal aberrations responsible for moderate to severe intellectual disability. We hypothesised that epilepsy alone could be caused by microdeletions or microduplications, which might also relate to epilepsy refractory to medication. Chromosomes from 20 subjects with epilepsy and repeated failure of antiepileptic medication were examined using molecular methods. Firstly, the 41 subtelomeric regions were scanned using fluorescence in situ hybridization and multiplex ligation‐dependent probe amplification. Secondly, a genome‐wide scan was carried out using oligonucleotide‐array comparative genome hybridisation on two platforms: Nimblegen and Agilent. Two aberrations (2/20) were identified: a recurrent microdeletion at 15q13.3 previously characterised in patients with seizures that generally respond to medication, and a novel 1.15 Mb microchromosomal duplication at 10q21.2 also present in the unaffected mother. We conclude that gene content of microchromosomal aberrations is not a major cause of refractory seizures, but that microchromosomal anomalies are found in an appreciable fraction of such cases.
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases
Authors: Vendrame Martina , Poduri Annapurna , Loddenkemper Tobias , Kluger Gerhard , Coppola Giangennaro , Kothare Sanjeev V.
Published: August 2019

The syndrome of malignant migrating partial seizures of infancy (MMPEI) is characterized by early onset of multiple seizures types, highly pharmaco‐resistant seizures, and overall poor prognosis. In this study, we investigated retrospectively the efficacy of rufinamide (RUF) in five infants with MMPEI, by examining seizure type and frequency, EEG features and antiepileptic drug use. The data demonstrate that two of the five patients showed good efficacy and tolerability for RUF with a >50% reduction in seizure frequency. The use of RUF for the treatment of MMPEI may therefore provide some hope for such infants and should be further validated.[Published with video sequences]
Facio‐mandibular myoclonus: a rare cause of nocturnal tongue biting
Authors: Seneviratne Udaya
Published: August 2019

Facio‐mandibular myoclonus is a parasomnia characterized by forceful myoclonus of masticatory muscles in sleep. This condition typically presents with recurrent nocturnal tongue biting, which can be misdiagnosed for nocturnal seizures. The use of surface electromyographic channels over the facial muscles during video‐EEG monitoring is helpful in confirming the diagnosis based on a typical burst pattern. This case report highlights difficulties in the diagnosis of facio‐mandibular myoclonus and useful features which differentiate it from similar conditions.
Electroclinical features of benign infantile seizures with mild gastroenteritis
Authors: Saadeldin Imad Yassin
Published: August 2019

The purpose of this study was to analyze the electroclinical features of patients with benign infantile seizures with mild gastroenteritis and demonstrate the benign nature of this entity. From 30 patients who were included in the study, five were excluded (two with developmental delay, one with microcephaly and two lost during follow‐up). Twenty‐five patients who fulfilled the diagnostic criteria for benign infantile seizures with mild gastroenteritis were assessed and followed at the Pediatric Department, Armed Forces Hospital, Southern Region, Khamis Mushayt, Saudi Arabia, between January 2004 and January 2009. The median age at presentation was 10.4 months. Of the infants, 14 were females and 11 were males. Seizures were focal tonic or clonic in eight (32%) patients, focal with secondary generalisation in three (12%), generalised tonic‐clonic in nine (36%) and consisted of staring only with no motor components in five (20%). Interictal electroencephalograms and brain imaging were normal for all patients. No patient required treatment with antiepileptic drugs. All the patients were found to have normal psychomotor development and neurological examination after a follow‐up period of between 15 and 56 months. The limitations of this study are the relatively small sample size, relatively short study period and the fact that the study was conducted in a tertiary referral hospital. The prevalence of this entity may be more common at the level of primary health centres. Increasing the awareness of clinicians regarding the existence of this syndrome and its benign nature in children will limit unnecessary investigations.[Published with video sequences]
Rufinamide from clinical trials to clinical practice in the United States and Europe
Authors: Resnick Trevor , Arzimanoglou Alexis , Brown Lawrence W. , Flamini Robert , Kerr Michael , Kluger Gerhard , Kothare Sanjeev , Philip Sunny , Harrison Miranda , Narurkar Milind
Published: August 2019

Rufinamide is a triazole derivative structurally unrelated to other antiepileptic drugs that is indicated for the adjunctive treatment of seizures associated with Lennox‐Gastaut syndrome (LGS) in patients aged ≥4 years. Originally granted orphan drug status, marketing authorisation was obtained on the basis of a randomised, double‐blind, placebo‐controlled trial conducted in 138 LGS patients. An open‐label extension study subsequently demonstrated that rufinamide's efficacy and tolerability were maintained over the longer term (median duration of treatment, 432 days). Recently published reports from Europe and the United States have described the use of adjunctive rufinamide to treat LGS in clinical practice. These data complement the clinical trial results, by providing information on the efficacy and tolerability of rufinamide when used on an individualised basis in real‐world practice, under less tightly restricted conditions in terms of patient population and dosing strategies. A comparison of the data reveals that a “lower and slower” dosing strategy tends to be adopted in clinical practice, in comparison with the clinical trial, which does not appear to compromise efficacy, but may provide improvements in tolerability. Individual case reports provide additional valuable information on how rufinamide is being used to treat different seizure types associated with LGS. Since clinical experience with rufinamide is currently at an early stage, there are still unanswered questions relating to its use, and it is likely that its place in the adjunctive treatment of LGS will evolve as further data emerge.
Complex partial status epilepticus: an unusual presentation
Authors: Praharaj Samir Kumar , Sarkhel Sujit , Paul Imon , Tripathi Anshuman , Katshu Mohammad Zia‐ul‐Haq , Sinha Vinod Kumar
Published: August 2019

Nonconvulsive status epilepticus (NCSE) is not uncommon, especially in the elderly population. It can occasionally present as confusion, personality change, coma, subtle motor activity and psychosis, thus causing diagnostic difficulties. We report an unusual case of NCSE which presented as psychosis‐like episodes at regular intervals. The confirmation of diagnosis was aided by serial electroencephalography.
Fronto‐polar epilepsy masquerading as juvenile myoclonic epilepsy
Authors: Keezer Mark R. , Saint‐Hilaire Jean‐Marc , Nguyen Dang Khoa
Published: August 2019

A woman diagnosed with juvenile myoclonic epilepsy for over 30 years presented with stereotyped episodes of abnormal sensations in both arms. Continuous video‐EEG monitoring for 14 days and MRI brain revealed that the patient's somatosensory events with associated postictal aphasia, as well as her myoclonic and generalised tonic‐clonic seizures, were likely due to a symptomatic left fronto‐polar epilepsy. Our case emphasizes the need for clinicians to consider fronto‐polar epilepsy as a potential cause of myoclonic seizures, particularly when associated with other semiologic features suggestive of frontal lobe epilepsy. [Published with video sequences]
Epileptic seizure induced by fennel essential oil
Authors: Skalli Souad , Bencheikh Rachida Soulaymani
Published: August 2019

An epileptic seizure is reported in a 38‐year‐old woman, known to be an epileptic patient. Although she was under antiepileptic treatment and had well‐controlled epilepsy, she developed a typical generalised tonic‐clonic seizure and remained unconscious for 45 minutes following ingestion of a number of cakes containing an unknown quantity of fennel essential oil. Involuntary diarrhoea accompanied her epileptic seizure. This reported case recalls the fact that fennel essential oil can induce seizures and that this oil should probably be avoided by patients with epilepsy. Labelling of products with fennel essential oil should refer to the risk of seizures, particularly for patients with epilepsy. An awareness programme should involve all stakeholders affected by this issue.
“Benign” myoclonic epilepsy of infancy as the initial presentation of glucose transporter‐1 deficiency
Authors: Gaspard Nicolas , Suls Arvid , Vilain Catheline , De Jonghe Peter , Van Bogaert Patrick
Published: August 2019

We report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy. Eventually, he had a poor outcome with refractory generalised tonic‐clonic, myoclonic and absence seizures, ataxia, significant mental impairment and slowing of head growth. He responded poorly to ketogenic diet. This case extends the phenotype of GLUT1‐related syndromes and also sheds light on the genetic basis of myoclonic epilepsies of infancy suggesting that variable outcome may depend on genetic factors. [Published with video sequences]
Dravet syndrome with an exceptionally good seizure outcome in two adolescents
Authors: Kobayashi Katsuhiro , Ohmori Iori , Ouchida Mamoru , Ohtsuka Yoko
Published: August 2019

We present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall favourable seizure outcome may be related to the prevention of convulsive status epilepticus.
Atypical presentation in Rasmussen encephalitis: delayed late‐onset periodic epileptic spasms
Authors: Ferrari Taíssa P.F. , Hamad Ana P.A. , Caboclo Luís Otávio S.F. , Centeno Ricardo S. , Zaninotto Ana Luiza , Scattolin Monica , Junior Henrique Carrete , Lancellotti Carmem L.P. , Yacubian Elza Márcia T.
Published: August 2019

A five‐and‐a‐half‐year‐old girl started experiencing progressive left hemiparesis at age two and a half years. At age five years and four months she started presenting clusters of asymmetric periodic epileptic spasms with no hypsarrhythmia. The ictal EEG showed periodic, constant and stereotyped complexes. Serial brain imaging revealed progressive atrophy of the right hemisphere with increased T2 signal on MRI. She underwent a right hemispherotomy, and histological examination showed signs of inflammation and features of focal cortical dysplasia (FCD). She has been seizure‐free for 16 months. This case is unique in the following aspects: the presence of typical Rasmussen encephalitis features of progressive unilateral brain involvement without seizures, a delay of almost three years prior to seizure onset; an atypical seizure type presentation with periodic epileptic spasms and the presence of FCD associated with inflammatory changes. [Published with video sequences]
A new form of alpha‐dystroglycanopathy associated with severe drug‐resistant epilepsy and unusual EEG features
Authors: Di Rosa Gabriella , Messina Sonia , D'Amico Adele , Bertini Enrico , Pustorino Giuseppina , Spanò Maria , Tortorella Gaetano
Published: August 2019

We describe two unrelated girls with congenital muscular dystrophy associated with alpha‐dystroglycan deficit with no identified genetic defect, both presenting severe drug‐resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker‐Warburg, Fukuyama and muscle‐eye‐brain diseases. [Published with video sequences]
Vagus nerve stimulation: effectiveness and tolerability in 64 paediatric patients with refractory epilepsies
Authors: Cersósimo Ricardo O , Bartuluchi Marcelo , Fortini Sebastian , Soraru Alejandra , Pomata Hugo , Caraballo Roberto H
Published: August 2019

Aim

We discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 64 paediatric patients with refractory epilepsies.

Materials and methods

Sixty‐four patients (34 male and 30 female) implanted with VNS for refractory epilepsy were analysed. Electroclinical features were compatible with Lennox‐Gastaut syndrome in 46 patients, focal epilepsies in 10 patients, Dravet syndrome in three patients, epilepsy with myoclonic‐astatic seizures in three patients, and West syndrome in two. The NeuroCybernetic Prosthesis (NCP) system (Cyberonics, Webster, TX, USA) was employed and the following stimulation parameters were used: output current of 1 to 2.5mA, signal frequency of 30Hz, signal pulse width of 500μs, and signal “on” and “off” times of 30 seconds and 5 minutes, respectively.

Results

Of 46 patients with LGS, 30 cases showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. Ten patients with focal epilepsy, three patients with myoclonic‐astatic seizures, two patients with Dravet, and two patients with West showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. A good clinical response was evident early and efficacy progressively improved with the duration of treatment up to 36 months. In a significant number of patients, reduced seizure severity and shorter recovery time and hospital stay were also observed. VNS was well tolerated in all patients.

Conclusion

VNS is an effective and well‐tolerated treatment for paediatric patients with refractory epilepsies, improving quality of life and neuropsychological performance.
Seizure‐related adverse events during video‐electroencephalography monitoring
Authors: Liu Jianming , Meng Fanxin , Liu Zhiliang
Published: August 2019

Aim. The aim of this study was to characterise seizure‐related adverse events during video‐electroencephalography (vEEG) monitoring. Methods. Our study evaluated adverse events in 230 epilepsy patients during vEEG monitoring while patients were awake and asleep. Results. A total of 588 seizures were recorded and 231 adverse events were identified including electrode displacement (14.5%), aspiration risk (8.5%), urinary incontinence (7.5%), postictal psychosis (5.8%), tongue biting (5.3%), and patient falls (0.5%). No severe types of adverse events were observed, such as choking or aspiration pneumonia. Of the seizures recorded, 39.1% occurred while patients were sleeping and 38.5% of adverse events occurred during this time, which included electrode displacement (48.2%), aspiration risk (28.0%), tongue biting (60.0%), postictal psychosis (16.7%), patient falls (66.7%), and urinary incontinence (38.6%). Conclusion. The occurrence of seizure‐related adverse events during vEEG monitoring is mild. vEEG is an acceptably safe procedure for epilepsy research and precautions should be put in place to prevent these events.
Are proprioceptive‐induced reflex seizures epileptically‐enhanced stretch reflex manifestations?
Authors: Szúcs Anna , Rásonyi György , Orbay Péter , Sólyom András , Holló András , Arányi Zsuzsanna , Janszky József , Erőss Lóránd , Kamondi Anita
Published: August 2019

In reflex seizures induced by proprioceptive stimuli, the activated network may be identified as a single anatomo‐functional circuit; the sensory‐motor network. These seizures may be considered as epileptically‐enhanced stretch reflexes. Proprioceptive reflex epilepsies are a good example of the so‐called “system epilepsies”. We present three cases discussing the clinical features of such epilepsies. [Published with videosequences]
Involuntary movements after correction of vitamin B12 deficiency: a video‐case report
Authors: Zanus Caterina , Alberini Elena , Costa Paola , Colonna Franco , Zennaro Floriana , Carrozzi Marco
Published: August 2019

Involuntary movements can appear before and after initiation of vitamin B12 treatment. The pathogenesis of involuntary movements in vitamin B12 deficiency and their relationship with cobalamin injection remain unclear due to a lack of video‐EEG documentation making the electroclinical correlation difficult to ascertain. Here, we report video‐EEG and neuroimaging findings of an 11‐month‐old girl with vitamin B12 deficiency, who acutely developed involuntary movements a few days after initiation of vitamin B12 treatment with normal vitamin plasmatic levels. Abnormal movements were a combination of tremor and myoclonus involving the face, mouth, and left arm, which disappeared after discontinuation of therapy. [Published with video sequences]
What clinical trial designs have been used to test antiepileptic drugs and do we need to change them?*
Authors: Perucca Emilio
Published: August 2019

Designs used to evaluate the efficacy and safety of antiepileptic drugs (AEDs) have evolved considerably over the years. A major impulse to develop methodologically sound randomised controlled trials dates back to the Kefauver‐Harris Drug Amendment of 1962, through which the US congress introduced the requirement of substantial evidence for proof of efficacy in a new drug application. The mainstay for the initial approval of most new AEDs has been, and still is, the placebo‐controlled adjunctive therapy trial, which evolved over the years from the cross‐over to the parallel‐group design. In the early days, when few AEDs were available, enrolment of patients into these trials was relatively easy and prolonged placebo exposure could be justified by lack of alternative treatment options. With more than 20 drugs now available to treat epilepsy, however, exposing patients to placebo or to a potentially ineffective investigational agent faces practical and ethical concerns. Recruitment difficulties have led sponsors to markedly increase the number of trial sites, but there is evidence that this may adversely affect the ability to differentiate between effective and ineffective treatments. Methodological and practical difficulties are also encountered with monotherapy trials. Because regulatory guidelines for monotherapy approval differ between Europe and the US, sponsors need to pursue separate and costly development programs on the two sides of the Atlantic. Moreover, the scientific validity of the monotherapy trial paradigms currently used in Europe (the non‐inferiority design) and in the US (the conversion to monotherapy design with historical controls) has been questioned. This article will review these issues in some detail and discuss how trial designs and regulatory approval processes may evolve in the future to address these concerns.
Surgical control of limbic encephalitis associated with LGI1 antibodies
Authors: Almeida Vânia , Pimentel José , Campos Alexandre , Bentes Carla , Maruta Carolina , Morgado Carlos , Martins Isabel Pavão
Published: August 2019

Limbic encephalitis with LGI1 antibodies may cause drugresistant temporal lobe epilepsy. We report a case of a young man with progressive drug‐resistant focal epilepsy, hyperhidrosis, and memory impairment associated with a left mesial temporal lesion. Epilepsy surgery was performed with the provisional diagnosis of cortical dysplasia or tumour. A neuropathological study following amygdalohippocampectomy revealed limbic encephalitis and LGI1 antibodies were identified in the serum. Two and a half years after surgery, the patient remains seizurefree without medication, with normal memory and without hyperhidrosis. Although immunosuppression is the first‐line therapy for autoimmune limbic encephalitis, this case suggests that, in selected cases, a lasting response can be achieved with surgery.
Cryptogenic West syndrome and subsequent mesial temporal lobe epilepsy
Authors: Agari Takashi , Kobayashi Katsuhiro , Watanabe Kiyoko , Date Isao , Ohtsuka Yoko
Published: August 2019

We report on a male patient who experienced a previously unreported sequence of cryptogenic West syndrome in infancy and subsequent mesial temporal lobe epilepsy. His complex partial seizures were consistently characterised by motionless staring with brief right eye blinking. Scalp electroencephalography (EEG) showed bilateral temporal spikes which were dominant on the right side. Magnetic resonance imaging (MRI) revealed no organic brain lesion. Invasive EEG recording captured seizures with right hippocampal onset. The patient became seizure‐free following right temporal lobectomy at 27 years, 8 months of age. Pathological examination of the resected specimen revealed corpora amylacea and gliosis in the temporal cortex but no clear findings of hippocampal sclerosis. It is suggested that an epileptogenic lesion causing MRI‐negative mesial temporal lobe epilepsy may give rise to apparent cryptogenic West syndrome in infancy.
Epileptic seizures provoked by bathing with water at room temperature
Authors: Kravljanac Ruzica , Djuric Milena , Milovanovic Maja , Radivojevic Vlada
Published: August 2019

We report two Caucasian boys with seizures induced by bathing in lukewarm water. Different mechanisms of provocation were observed; in one boy a complex partial seizure was provoked by pouring water over the body, while in the other boy, a complex partial seizure with secondary generalisation was provoked by immersion. Since the water was not hot in either of the cases, the pathophysiological mechanism was not clear and the seizures could not be explained as hyperthermic‐related events. We suggest that in the ILAE classification of epilepsies and epileptic seizures, bathing epilepsy should be added as a separate category, distinct from “hot‐water epilepsy”. [Published with video sequences]
Late‐onset epileptic spasms may be cured by focal cortical resective surgery
Authors: Ricard‐Mousnier Brigitte , Dorfmuller Georg , Fohlen Martine , Jeanguillaume Christine , Nguyen Silvie , Delalande Olivier , Bulteau Christine
Published: August 2019

We report the case of a child with isolated late‐onset epileptic spasms who significantly improved after focal frontal cortectomy. Clusters of axial and limb tonic contractions with head nodding began at 2 years of age. They occurred only during sleep, lasting 15 to 20 minutes and were pharmacoresistant. The child suffered slight mental delay. Interictal EEG showed left frontal spikes in slow sleep. Ictal video‐EEG showed patterns of asymmetric spasms. MRI revealed a distinct white matter abnormality in the left frontal superior gyrus, corresponding clearly to localised cortical hypometabolism on FDG‐PET and PET‐MRI co‐recording. SEEG investigation showed that the first spasm of the clusters corresponded to a localised discharge of rapid rhythms from the electrodes placed within the area identified as a lesion by MRI. Discharges then became more diffuse across the left frontal and temporal electrodes throughout the duration of the cluster. A tailored focal frontal resection was performed at 16 years of age. Spasms were very rare during the following three years (Engel class II). This observation illustrates the fact that isolated epileptic spasms can be cured by focal cortical resection despite a lack of clearly localised EEG surface anomalies. [Published with video sequences]
Animal models to study aetiopathology of epilepsy: what are the features to model?*
Authors: Guillemain Isabelle , Kahane Philippe , Depaulis Antoine
Published: August 2019

In order to understand the physiopathology of epilepsies and develop antiepileptic drugs, animal models have been developed. These models appear to be valuable predictors of treatment efficacy; however, several of the currently used models remain questionable and probably inappropriate for the search for new treatments, in particular for epilepsies that cannot be treated by current antiepileptic drugs. In the present review, we report the results of a recent survey conducted by neurologists in charge of an epilepsy programme based at different hospitals in France. The 36 experts were questioned, via the internet, on the most critical features of four prototypic forms of epilepsy (idiopathic generalised epilepsies with convulsive seizures, absence epilepsy, focal epilepsy associated with dysplasia, and focal epilepsy associated with hippocampal sclerosis) that should be taken into account with regards to the relevance of animal models of epilepsy. Their answers suggest that most current models for focal epilepsies associated with either dysplasia or hippocampal sclerosis do not address the most relevant features. The models currently used in mice and rats are discussed in light of the data obtained in our survey.
Ambulatory EEG: a cost‐effective alternative to inpatient video‐EEG in adult patients
Authors: Dash Dianne , Hernandez‐Ronquillo Lizbeth , Moien‐Afshari Farzad , Tellez‐Zenteno Jose F.
Published: August 2019

Introduction

Ambulatory electroencephalography (AEEG) is a monitoring technique that allows the recording of continuous EEG activity when patients are at home, without the necessity of admission to the hospital for prolonged video‐EEG monitoring.

Methods

This is a prospective cohort study performed in a Canadian academic centre in order to assess the yield and tolerability of AEEG in the adult population. Over a period of three years, 101 patients were included. The yield of AEEG was assessed by taking into account the questions asked by the clinician before and after the investigation.

Results

One hundred and one patients undergoing AEEG were prospectively recruited during a three‐year‐period. Our population consisted of 45 males (44.6%) and 56 females (55.4%). The mean age of the group was 36.6±16.1 years. Most of the patients had at least one previous routine EEG (93%). The primary reasons for the AEEGs were subdivided into four categories: a) to differentiate between seizures and non‐epileptic events; b) to determine the frequency of seizures and epileptiform discharges; c) to characterize seizure type or localization; and d) to potentially diagnose epilepsy. The mean duration of AEEG recording was 32±17 hours (15‐96 hours). For 73 (72%) patients, the AEEG provided information that was useful for the management. For 28 (28%) patients, the AEEG did not provide information on diagnosis because no events or epileptiform activity occurred. In only 1 patient was the AEEG inconclusive due to non‐physiological artefacts. Three patients were referred for epilepsy surgery without the necessity of video‐EEG telemetry.

Conclusion

In this study, we found that AEEG has a high diagnostic yield (72%) and believe that careful selection of patients is the most important factor for a high diagnostic yield. The main use of AEEG is the characterization of patients with non‐epileptic events, in patients with a diagnosis of epilepsy that is not clear, and quantification of spikes and seizures to improve the medical management. Ambulatory EEG is a cost‐effective solution for increasing demands for in‐hospital video‐EEG monitoring of adult patients.
Vivid recollection of a past traumatic event: a rare manifestation of temporal lobe seizures
Authors: Koubeissi Mohamad Z.
Published: August 2019

Vivid recollection of a particular past memory is a rare ictal phenomenon in temporal lobe epilepsy. When the memory is traumatic, the presentation may mimic post‐traumatic stress disorder (PTSD). We report a woman with temporal lobe epilepsy who was misdiagnosed with posttraumatic stress disorder for two years before she had a suspected generalised seizure; video‐EEG monitoring confirmed that her episodes were epileptic. Adequate treatment with an antiepileptic medication resulted in total resolution of the episodes.
Near‐infrared spectroscopy shows preictal haemodynamic changes in temporal lobe epilepsy
Authors: Slone Edward , Westwood Erica , Dhaliwal Harinder , Federico Paolo , Dunn Jeff F
Published: August 2019

Aim

Growing evidence suggests that focal seizures are preceded by haemodynamic changes. Specifically, changes in cerebral blood flow, blood oxygen level‐dependent magnetic resonance imaging, and near‐infrared spectroscopy measurements of haemoglobin have been observed in the seizure focus and other brain regions many minutes prior to the onset of spontaneous seizures. The purpose of this study was to detect preictal haemodynamic changes using near‐infrared spectroscopy, a portable and non‐invasive optical technique that measures changes in cerebral haemoglobin.

Methods

Five subjects with temporal lobe seizures were studied using near‐infrared spectroscopy until a seizure was observed, as confirmed by electroencephalography or clinical symptoms. Relative changes in oxy‐ and deoxyhaemoglobin, total haemoglobin, and blood oxygen saturation were assessed in the anterior frontal lobes between 15 minutes and one minute prior to seizure onset.

Results

In all subjects, a decrease in oxyhaemoglobin, total haemoglobin, and oxygen saturation was observed in the frontal lobe, ipsilateral to the presumed seizure focus. On the contralateral side, all subjects showed a decrease in relative oxyhaemoglobin content. No consistent change in deoxyhaemoglobin was seen on either side.

Conclusions

Preictal haemodynamic changes can be detected in the frontal lobes using near‐infrared spectroscopy. Our results suggest that a decrease in metabolic rate, and thus neuronal activity, occurs in the ipsilateral frontal lobe prior to the onset of temporal lobe seizures. Extratemporal haemodynamic changes may therefore be an important marker for seizure anticipation.