bluuebunny/crossref_metadata_2025_split huggingface dataset:
Benign infantile focal epilepsy with midline spikes and waves during sleep: a new epileptic syndrome or a variant of benign focal epilepsy?
Authors: Flesler Santiago , Sakr Diego , Cersósimo Ricardo , Caraballo Roberto 
Published: August 2019

ABSTRACTObjectiveTo analyze the electroclinical features and evolution of seven infants with benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE).Material and methodsSeven patients were examined at our department between February 2003 and February 2009, with onset of seizures between six and 13 months of age (mean, 10.2 months; median, 11 months). Patients with cryptogenic and symptomatic focal epilepsies were excluded. Sex, age, familial history, type of seizures and AED treatment were noted and EEG monitoring, MRI and CT scanning, and developmental and psychomotor evolution were investigated.ResultsPatients included five males and two females. All patients suffered from seizures during wakefulness. Two of the patients (29%) did not have a recurrence. Five (71%) had sporadic seizures (ranging between two and five). One of the seven patients (14%) presented with seizures in clusters. During seizures, staring was observed in six (86%), motion arrest in five (71%), stiffening in five (71%), cyanosis in three (42%), automatisms in one (14%) and lateralizing signs in four (57%). Two patients (29%) had secondary generalisation. The duration of the seizures ranged between 30 seconds and five minutes. No status epilepticus was observed. The interictal EEG recording during sleep showed low‐voltage unilateral or bilateral spikes located in the central and vertex regions, followed by slow waves in all patients. Outcome was excellent in all patients.ConclusionWe believe that BIMSE is a new syndrome rather than an early presentation of benign epilepsy of childhood with centrotemporal spikes, Panayiotopoulos syndrome, or a late presentation of benign focal infantile seizures.
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
Authors: Giovannini Simona , Frattini Daniele , Scarano Angela , Fusco Carlo , Bertani Gianna , Giustina Elvio Della , Martinelli Paola , Orteschi Daniela , Zollino Marcella , Neri Giovanni , Gobbi Giuseppe 
Published: August 2019

ABSTRACTEpilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early‐onset, polymorphous and drug‐resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine‐year‐old Caucasian boy with ring 14 syndrome who presented a severe early‐onset and drug‐resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non‐convulsive status epilepticus. The electro‐clinical evaluation of prolonged seizures and their long‐term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
Authors: Rochette Jacques , Roll Patrice , Fu Ying‐Hui , Lemoing Anne Gaëlle , Royer Barbara , Roubertie Agathe , Berquin Patrick , Motte Jacques , Wong Sau Wei , Hunter Alasdair , Robaglia‐Schlupp Andrée , Ptacek Louis J. , Szepetowski Pierre 
Published: August 2019

ABSTRACTEpilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co‐inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has been mapped at chromosome 16p12‐q12 (ICCA region). We report the clinical picture of seven previously unreported families with ICCA syndrome. The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s).
The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy
Authors: Djuric Milena , Kravljanac Ruzica , Kovacevic Gordana , Martic Jelena 
Published: August 2019

ABSTRACTThe syndrome of malignant migrating partial seizures in infancy is a devastating, age‐specific, epileptic encephalopathy, which still presents an aetiological, pathophysiological and therapeutic problem. In this study, we present two patients who were diagnosed with the disease, based on electroclinical symptoms. The patients were treated with a combination of sodium bromide, stiripentol and levetiracetam. The first patient unequivocally responded, following a course of ineffective conventional drugs, and the second, who was diagnosed and treated immediately, showed a more significant therapeutic response. Antiepileptic drugs, previously reported to be beneficial in case reports, when given concomitantly, may substantially reduce the number and severity of seizures, without influence on psychomotor development.[Published with video sequences]
Focal seizure propagation illustrated by fMRI
Authors: Sonmezturk Hasan H. , Morgan Victoria , Abou‐Khalil Bassel 
Published: August 2019

ABSTRACTWe report the pattern of seizure propagation as detected by functional MRI (fMRI) in a 24‐year‐old man with frequent recurrent electrographic seizures. The EEG seizure onset was left occipital with later spread to the left hemisphere and, to a lesser extent, the right hemisphere. The fMRI showed initial increase in blood oxygen level‐dependent (BOLD) signal in the left occipital pole. The increased signal then propagated to the right occipital‐posterotemporal region, and subsequently, the right and left mesial temporal regions. fMRI can be an effective tool to study seizure onset localization and seizure propagation in patients with frequent recurrent seizures.
Sturge‐Weber syndrome: a favourable surgical outcome in a case with contralateral seizure onset and myoclonic‐astatic seizures
Authors: Jiruska Premysl , Marusic Petr , Jefferys John G.R. , Krsek Pavel , Cmejla Roman , Sebronova Vera , Komarek Vladimir 
Published: August 2019

ABSTRACTSturge‐Weber syndrome is a neurocutaneous disorder classically characterized by the presence of facial port‐wine stain and ipsilateral leptomeningeal angiomatosis. It is often associated with refractory epilepsy which requires surgical treatment. We present a case of a patient who initially presented with partial seizures of temporo‐occipital origin, ipsilateral to the pial angiomatosis. During the course of the disease, the patient developed medically refractory epilepsy with partial seizures originating predominantly from the contralateral temporo‐occipital area as well as myoclonic and myoclonicastatic seizures. Resection of the occipital and temporal lobe affected by the pial angioma resulted in favourable outcome. Bilateral dysfunction observed in Sturge‐Weber syndrome may result in an increased capability of focal discharges to generate synchronous epileptiform activity leading to an increased incidence of generalised seizures, most probably via a mechanism of secondary bilateral synchrony. [Published with video sequences]
Addressing overtreatment in patients with refractory epilepsy at a tertiary referral centre in Brazil
Authors: Alexandre Veriano , Monteiro Edna Almeida , Freitas‐Lima Priscila , Pinto Kylvia Dantas , Velasco Tonicarlo Rodrigues , Terra Vera Cristina , Pinheiro‐Martins Ana Paula , Souza Roberto Molina , Perucca Emilio , Sakamoto Americo Ceiki 
Published: August 2019

ABSTRACTBackgroundPatients with refractory epilepsy often have impaired quality of life (QOL) as a consequence of seizures and adverse effects of antiepileptic drugs. We assessed the impact of adverse effects on QOL and the utility of a structured instrument to help the physician manage adverse effects in patients with refractory epilepsy.MethodsClinical characteristics, drug treatment and adverse effects were evaluated in 102 patients with refractory epilepsy at a single tertiary referral centre. The Adverse Events Profile (AEP) and Quality of Life in Epilepsy‐31 (QOLIE‐31) questionnaires were completed at baseline and after six months. At baseline, patients with a high burden of adverse effects (AEP scores ≥45) were randomized to an intervention or control group. AEP scores in the intervention group were available to the physician as an instrument to help to reduce adverse effects.ResultsNinety‐five patients (93.1%) were on polytherapy. Sixty‐six completed the questionnaires and, of these, 43 (65.1%) had a high AE burden and were randomized to the intervention and control group. QOLIE‐31 scores were inversely correlated with AEP scores at both visits. Among randomized patients, AEP scores tended to decrease between the baseline and the final visit without significant differences between groups (intervention group: 54.1 ± 6.1 vs 51.1 ± 9.1; control group: 55.8 ± 5.8 vs 50.5 ± 12.2). QOLIE‐31 scores did not change substantially between visits (intervention group: 45.9 ± 17.4 vs 48.4 ± 14; control group: 47.5 ± 15.7 vs 45.2 ± 18.9).ConclusionA significant proportion of patients had a high toxicity burden which had an impact on their QOL. Reduction of overtreatment is a difficult challenge which cannot be addressed solely by providing a structured assessment of adverse effects, but requires a more comprehensive approach aimed at optimizing the many components of the management strategy.
Late‐onset Rasmussen's encephalitis and long‐term remission
Authors: Kupila Laura , Jutila Leena , Immonen Arto , Vanninen Ritva , Mervaala Esa , Pateau Anders , Luostarinen Liisa , Kälviäinen Reetta 
Published: August 2019

ABSTRACTWe describe an adult man with biopsy‐proven Rasmussen's encephalitis and intractable epilepsy, who underwent excellent recovery. To our knowledge, this is the first report of a patient with Rasmussen's encephalitis who has become completely symptomless, at least for three years, on enhanced antiepileptic and immunological medication.
Extraoccipital photoparoxysmal response in a case of focal encephalitis
Authors: Jukkarwala Anis , Hassan Haseeb , Nair Muralidharan , Iyer Rajesh S. 
Published: August 2019

ABSTRACTPhotoparoxysmal response (PPR) is commonly associated with idiopathic generalised epilepsies. Most of the focal events induced by intermittent photic stimulation (IPS) are reported to be of occipital origin. Only six temporal lobe epilepsy patients have been reported in the literature with focal PPR at extraoccipital sites. We report a four‐year‐old girl with possible encephalitis who presented initially with epilepsia partialis continua of limbs on the right side. Interictally, she had left centro‐parietal periodic lateralized epileptiform discharges (PLEDs). She responded to medical treatment and was free of seizures and motor and cognitive deficits at six months follow‐up. Repeat EEG at follow‐up showed left centro‐parietal spikes accentuated by IPS. This is the first report of an extraoccipital, extratemporal focus showing PPR. The possible mechanism of PPR from this fronto‐parietal epileptogenic focus is discussed.
Association between ABCB1 polymorphism and response to sodium valproate treatment in Malaysian epilepsy patients
Authors: Haerian Batoul Sadat , Lim Kheng Seang , Tan Hui Jan , Mohamed Elsa Hanifa Mejia , Tan Chong Tin , Raymond Azman Ali , Wong Chee Piau , Wong Sau Wei , Omar Haslyna , Roslan Harun , Mohamed Zahurin 
Published: August 2019

ABSTRACTOver‐expression of P‐glycoprotein, encoded by the ABCB1 gene, is proposed to be involved in resistance to antiepileptic drugs in about 30% of patients with epilepsy. Here, we investigated the possible association between ABCB1 polymorphisms and sodium valproate (VPA) treatment in Malaysian epilepsy patients. Genotypes were assessed in 249 drug‐resistant and 256 drug‐responsive Malaysian patients for C1236T, G2677T/A, and C 5T polymorphisms in the ABCB1 gene. No genotypes, alleles, or haplotypes were associated with the response to VPA in either the overall group or Chinese, Indian, and Malay subgroups. Our data suggest that C1236T, G2677T/A, and C3435T polymorphisms in the ABCB1 gene do not contribute to the response to VPA in patients with epilepsy.
Reflex seizures induced by micturition and defecation, successfully treated with clobazam and phenytoin
Authors: Higuchi Tsukasa , Fukuyama Tetsuhiro , Misawa Yuka , Inaba Yuji , Ichikawa Motoki , Koike Kenichi 
Published: August 2019

ABSTRACTWe report a six‐year‐old girl with seizures induced by both micturition and defecation. Several days after unprovoked generalised tonic‐clonic seizures, she developed reflex seizures characterised by the extension of both arms and rhythmic jerking of her upper body. No abnormal findings were noted on brain magnetic resonance imaging. Interictal electroencephalography (EEG) showed spike‐and‐wave activity on central electrode recording, and rhythmic fast activity was recorded by central electrodes during the ictal EEG upon micturition. The combination of clobazam and phenytoin was effective for both unprovoked and reflex seizures. Although some previous reports have described reflex seizures triggered by either micturition or defecation, this is the first case report of reflex seizures induced by both micturition and defecation in the same patient. Based on a comparison with previous cases of reflex seizures induced either by micturition or defecation, the neuronal pathway from the pelvic base musculature to the supplementary motor area may be responsible for the condition in our patient.
Malignant migrating partial seizures in a 4‐month‐old boy
Authors: Gilhuis H. Jacobus , Schieving Jolanda , Zwarts Machiel J. 
Published: August 2019

ABSTRACTMalignant migrating partial seizures in infancy is an epilepsy syndrome characterised by an onset before the age of six months, multifocal seizures and an EEG pattern consisting of seizures which occur independently and sequentially from both hemispheres. The clinical course of a four‐month‐old boy with this syndrome, illustrated by video material of the seizures and EEG recordings, is described. The possible neurophysiological mechanism of epileptogenic activity alternating or ‘migrating’ from one hemisphere to the other is discussed.
Non‐convulsive status epilepticus characterised exclusively by a language disorder induced by non‐ketotic hyperglycaemia
Authors: Pro Stefano , Randi Franco , Pulitano Patrizia , Vicenzini Edoardo , Mecarelli Oriano 
Published: August 2019

ABSTRACTNon‐ketotic hyperglycaemia is an endocrine emergency characterised by elevated blood glucose levels and high plasma osmolarity. While hypoglycaemia‐induced seizures are usually generalised, hyperglycaemia‐induced seizures are often focal and secondary to the presence of brain lesions. Moreover, in the few studies in which language disorders of epileptic origin have been reported as a clinical manifestation of non‐ketotic hyperglycaemia, the disorders were usually not isolated but were followed by partial motor seizures. We describe a patient who presented with non‐convulsive partial status epilepticus and whose only sign was a fluctuating language disorder induced by non‐ketotic hyperglycaemia. There were no accompanying brain lesions and the patient responded optimally to diazepam. Neurophysiological EEG evaluation was fundamental for the diagnosis.
Benzodiazepine receptor imaging in an adult with Rasmussen's encephalitis and epilepsia partialis continua
Authors: Kataoka Hiroshi , Shinkai Takayuki , Kiriyama Takao , Tonomura Yasuyo , Ueno Satoshi 
Published: August 2019

ABSTRACTWe describe an adult with Rasmussen's encephalitis associated with widespread decreased accumulation of tracer on 123‐I iomazenil (IMZ) SPECT. The patient had a form of epilepsia partialis continua and neurological deterioration associated with hemiatrophy. Cranial MRI showed cerebral atrophy in the left frontal, parietal, and temporal lobes, without abnormal intensity. Delayed IMZ SPECT showed widespread decreased accumulation of tracer in the left temporal and frontal regions. An early scan showed mildly decreased accumulation in the left temporal and frontal regions. Three‐dimensional stereotactic surface projection (3D‐SSP) analysis showed that the decreased regions on delayed IMZ images were slightly larger as compared with the previous IMZ study performed. Some regions without decreased accumulation of tracer on Tc‐ECD or early IMZ images showed decreased accumulation on delayed IMZ images. This case study suggests that benzodiazepine receptors may be reduced in the affected hemisphere of patients with Rasmussen's encephalitis.
Extrapyramidal epilepsy
Authors: Karakis Ioannis , Cole Andrew J. , Hoch Daniel B. , Sharma Nutan 
Published: August 2019

ABSTRACTNon‐epileptic paroxysmal movement disorders are rare extrapyramidal diseases. The clinical signs are often excluded from differential diagnosis due to their paucity on clinical examination and low prevalence. The paroxysmal, stereotypical nature of non‐epileptic paroxysmal movement disorders, as well as the potential response to benzodiazepines, renders these disorders susceptible to misdiagnosis as epileptic seizures. We report a case of paroxysmal non‐kinesigenic dyskinesia which was misdiagnosed and treated as epilepsy for decades. The major pathophysiological, diagnostic and therapeutic hallmarks of the disease are summarised. Familiarity and inclusion of the disease in the list of conditions that mimic epilepsy, as well as prolonged video‐EEG recordings, may prevent diagnostic delays and unnecessary or belated treatments. [Published with video sequences]
Rhythmic heart beat artefacts mimicking an ictal EEG pattern with abundant interictal epileptiform activity in both mother and child
Authors: Van den Berg Petronella J. , Brekelmans Geert J.F. 
Published: August 2019

ABSTRACTWe present the EEG findings in a two‐year‐old girl with cryptogenic localisation‐related epilepsy. The electroencephalogram showed fronto‐temporal spike‐wave discharges. In addition, the EEG repeatedly showed activity at different electrodes consisting of spikes with varying amplitude, rhythmicity and frequency, mimicking polyspikes. Both low‐ and high‐amplitude spikes were generated from the same electrodes, however, only the low‐amplitude spikes coincided with features of the child's electrocardiogram. Video monitoring showed the child's head resting on her mother's chest. This spike pattern was shown to be a heart beat artefact originating from the mother, as implied by the rhythmicity and the shift to other electrodes by moving the child's head, causing electrocardiogram artefacts on the posterior electrodes. This case study underscores the importance of routine use of simultaneous electroencephalogram and video monitoring. [Published with video sequences]
Infliximab‐related seizures: a first case study
Authors: Brigo Francesco , Bongiovanni Luigi Giuseppe , Cerini Roberto , Manganotti Paolo , Storti Monica , Fiaschi Antonio 
Published: August 2019

ABSTRACTSeizures following infliximab treatment are very rare and, to date, there is no detailed description of EEG abnormalities with cerebral radiological findings reported in cases with infliximab‐related seizures. We describe a patient who acutely developed seizures temporally related to infliximab treatment, which disappeared after drug withdrawal. MRI showed encephalopathy involving mainly cortical regions and EEGs showed focal paroxysmal activity which completely disappeared a few days after infliximab withdrawal. No other plausible cause of the seizures was identified. The clear temporal association between seizure onset and infliximab treatment as well as the clinical improvement and disappearance of focal epileptiform activity after drug withdrawal indicated an evident correlation between seizures and infliximab therapy. The coexistence of pathological findings on MRI suggested that seizures were secondary to the encephalopathy. Further studies are required to evaluate whether infliximab per se has an epileptogenic effect or whether the seizures are caused by encephalopathy involving cortico‐subcortical regions.
Superselective anterior temporal resection in mesial temporal lobe epilepsy
Authors: Cordeiro Joacir Graciolli , Wagner Kathrin , Trippel Michael , Zentner Josef , Schulze‐Bonhage Andreas 
Published: August 2019

ABSTRACTWe report the case of a patient with pharmacoresistant mesial temporal lobe epilepsy presenting psychomotor seizures with onset at early childhood. MRI showed a blurred internal structure of the right hippocampus and right mammillary body atrophy. Neuropsychological testing revealed deficits in selective attention and visual planning. Non‐invasive recording was not sufficient to precisely detect the seizure onset zone. Invasive recording showed seizure onset in the temporo‐polar neocortex, with spread to the amygdalum and hippocampus. A superselective resection of the temporal pole and amygdalum was performed with preservation of the hippocampus. Histology revealed the presence of focal cortical dysplasia (Palmini type Ib). Seizure frequency was reduced after surgery, and seizure freedom for two years was achieved with optimisation of the antiepileptic drug regime. Memory functions were preserved, and selective attention and visual planning improved following limited resection. This case suggests that, in selected cases, highly targeted resections with preservation of memory‐relevant structures may be the best choice considering both seizure control and unimpaired cognitive functioning.
Seizures as a manifestation of multiple sclerosis
Authors: Sponsler Jeffrey L , Kendrick‐Adey Anastasia C 
Published: August 2019

ABSTRACTBackgroundThe incidence of seizures is generally accepted to be greater in patients with multiple sclerosis (MS) than in the general population, and rarely, MS can initially present as seizure.ObjectiveTo present a case report of seizure as the initial symptom of MS, to quantify the occurrence of seizures among MS patients, and to classify patients according to when seizures occur relative to onset of MS.MethodsThe medical history of patients presenting with MS and seizure in our clinic was examined. In addition, 25 scientific papers were reviewed and the number and characteristics of patients with MS and seizure recorded. Data from the literature review and from our own clinical series were combined and examined.ResultsOf the MS patients, 1.95% experienced seizures at any time during life. Patients experiencing seizures before MS diagnosis were classified into three categories: (a) 25 (7.3% of patients with MS and seizures) with seizure as the initial presentation of MS; (b) 27 (7.9%) with seizures appearing with other signs and symptoms of MS; and (c) 68 (20%) with seizures occurring years or an unknown period of time before MS onset. Seizure occurring as a symptom of MS relapse was found in 29 patients.ConclusionThe prevalence of seizures among MS patients was higher than that in the general population, indicating a relationship between seizures and MS. Seizures occurred before MS diagnosis in a small percentage of patients.
aPTT prolongation and skin eruption possibly associated with lamotrigine monotherapy in a paediatric patient
Authors: Yeom Jung Sook , Park Ji Sook , Seo Ji Hyun , Park Eun Sil , Lim Jae Young , Park Chan‐Hoo , Woo Hyang Ok , Youn Hee‐Shang 
Published: August 2019

ABSTRACTWe report the case of a six‐year‐old female with childhood absence epilepsy who developed combined aPTT prolongation, not corrected by normal plasma, and atypical skin eruption six months after initiating lamotrigine treatment with dose increment. Two weeks after lamotrigine withdrawal, the skin eruption disappeared and aPTT normalised. To our knowledge, this is the first report of aPTT prolongation possibly due to factor inhibitors associated with lamotrigine monotherapy.