bluuebunny/crossref_metadata_2025_split huggingface dataset:
Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures
Authors: Veerapandiyan Aravindhan , Singh Piyush , Mikati Mohamad A 
Published: August 2019

ABSTRACTOxcarbazepine has been reported to precipitate myoclonic, generalised tonic‐clonic, absence, and complex partial seizures, and carbamazepine to precipitate absences, myoclonic seizures and spasms. Here, we report a one‐year, six‐month‐old girl with complex partial seizures who developed infantile spasms, developmental regression, and hypsarrhythmia during the two weeks directly following initiation of oxcarbazepine (14 mg/kg/day). All of these resolved within a few days after discontinuation of this medication. Although we cannot rule out that the above association may have been coincidental, or that the improvement may have been due to concurrent therapy, this case raises the possibility that oxcarbazepine, like carbamazepine, may precipitate infantile spasms and West syndrome.
Frontal lobe epilepsy with atypical seizure semiology resembling shuddering attacks or wet dog shake seizures
Authors: Jahodova Alena , Krsek Pavel , Komarek Vladimir , Kudr Martin , Kyncl Martin , Zamecnik Josef , Tichy Michal 
Published: August 2019

ABSTRACTWe report a girl with a drug‐resistant frontal lobe epilepsy caused by focal cortical dysplasia, who exhibited uncommon seizures. The seizures consisted of shoulder or whole body shuddering after a short psychic aura and face grimacing. Consciousness was fully preserved. The seizures resembled “wet dog shake” seizures described in rat models of epilepsy or shuddering attacks in infants. EEG findings were inconclusive, however, MRI showed a clear dysplastic lesion in the right frontal mesial and polar structures. The patient underwent an extended lesionectomy guided by neuronavigation and intraoperative electrocorticography. Focal cortical dysplasia type Ib was histologically confirmed and the patient has been seizure‐free for the three years following resection. [Published with video sequences]
Topiramate and temporal lobe epilepsy: an open‐label study
Authors: Labate Angelo , Siniscalchi Antonio , Mumoli Laura , Aguglia Umberto , Quattrone Aldo , Gambardella Antonio 
Published: August 2019

ABSTRACTPurpose. To evaluate the efficacy and tolerability of topiramate (TPM) as monotherapy for patients with temporal lobe epileptic seizures based on an observational study. Methods. We evaluated 41 patients (20 female, mean age 54+18 years) with temporal lobe epilepsy (TLE) referred to the Epilepsy Unit, University of Catanzaro, Italy. Patients received TPM as monotherapy directly or after having taken other antiepileptic drugs. Seizure frequency changes and adverse events were recorded. Follow‐up was conducted for a period of at least two years after treatment. Results. Patients received TPM, 50‐600 mg/day, de novo (n=29) or initially as add‐on therapy before the switch (n=12). In total, 28 of 41 patients achieved seizure freedom, whereas 10 showed a ≥50% reduction of seizure frequency. Two patients did not respond well and one patient discontinued TPM due to adverse effects. Conclusions. Our results confirm that TPM as either monotherapy or add‐on therapy at doses of 50‐600 mg/day effectively reduces seizure frequency in TLE. TPM is particular effective and very well tolerated in patients with mild TLE.
Psychogenic gelastic seizures in a patient with hypothalamic hamartoma
Authors: Scarella Timothy , Macken Michael P , Gerard Elizabeth , Schuele Stephan U 
Published: August 2019

ABSTRACTGelastic seizures are classically associated with hypothalamic hamartoma. The most effective treatment for gelastic epilepsy is surgery, although confirming that a hypothalamic hamartoma is an epileptic lesion prior to surgical intervention is challenging. Here, we report the case of a patient with a hypothalamic hamartoma who was diagnosed with psychogenic non‐epileptic gelastic seizures using video‐EEG monitoring. [Published with video sequences]
Novel trial designs for monotherapy*
Authors: Brodie Martin J 
Published: August 2019

ABSTRACTUnlike many other areas of therapeutics, specific regulatory trial programmes are required to be undertaken in newly diagnosed epilepsy to support the licensing of novel antiepileptic drugs for use in drug‐naïve patients. To complicate matters further, American and European regulators have taken markedly different approaches to this issue, with the FDA requiring withdrawal to monotherapy data comparing more than one dose of newer agents with historical controls, whereas the EMA recommends undertaking randomised head‐to‐head studies versus an established comparator. The former studies are designed to show superiority compared to previously published data, whereas the latter will accept a non‐inferiority (equivalence) outcome. This paper discusses the positive and negative aspects of both designs and explores novel alternative options. Particular focus has been placed on placebo‐controlled studies following a single seizure with supportive electroencephalographic and/or brain imaging evidence, in the hope of identifying a realistic design that will satisfy licensing authorities on both sides of the Atlantic Ocean.
Use of simultaneous depth and MEG recording may provide complementary information regarding the epileptogenic region
Authors: Kakisaka Yosuke , Kubota Yuichi , Wang Zhong I. , Piao Zhe , Mosher John C. , Gonzalez‐Martinez Jorge , Jin Kazutaka , Alexopoulos Andreas V. , Burgess Richard C. 
Published: August 2019

ABSTRACTSimultaneous SEEG‐MEG recording has the potential to define the epileptic spike source accurately. We present a case of a 55‐year‐old female with intractable left temporal lobe epilepsy in whom we evaluated the relationship between the amplitude recorded from SEEG electrodes, inserted in the lateral temporal region, and their distance from the MEG‐modelled spike. We found a quadratic fall‐off relationship between the amplitude and distance. This result supports the concept that the MEG dipoles reflect the “centre” of spike locations and may provide comprehensive information for SEEG which records spike activities directly but is inherently limited in spatial sampling.
Extratemporal surface EEG features do not preclude successful surgical outcomes in drug‐resistant epilepsy patients with unitemporal MRI lesions
Authors: Garganis Kyriakos , Kokkinos Vasileios , Zountsas Basilios 
Published: August 2019

ABSTRACTOf 47 patients with onset of intractable partial seizures and temporal lobe MRI lesions, subjected to presurgical evaluation and temporal lobe surgery, we identified eight (mean age: 24 years; range: 7‐52 years) demonstrating surface interictal and/or ictal EEG features suggestive of an extratemporal localisation. All eight patients underwent surgery aiming to predominantly resect the lesion, without extending to the extra‐temporal region. The patients were prospectively followed (mean follow‐up duration: 38 months; range: 12‐66 months) and all achieved excellent postoperative seizure control. Extratemporal surface interictal/ictal EEG features were more often encountered in tumoural and focal cortical dysplasia cases, compared with medial temporal sclerosis cases, and were most frequently localised over frontopolar and suprasylvian‐pericentral locations. We postulate that propagation of interictal/ictal activity from the epileptogenic region of the temporal lobe to extratemporal neocortical areas, perhaps utilising the temporal pole and insula as intermediary nodes of a common epileptogenic network, accounts for the presence of our cohort's discordant lesion and EEG features.
Randomised controlled monotherapy trials: which comparators to use?*
Authors: Beghi Ettore 
Published: August 2019

ABSTRACTAs approximately 50% of patients with newly diagnosed epilepsy achieve seizure remission after initial monotherapy, the selection of the first‐choice drug to be used as the gold standard in randomised clinical trials is critical. Several first and second generation drugs have been used in regulatory and pragmatic monotherapy trials with similar efficacy but differing pharmacokinetic, tolerability, and safety profiles. None of the available compounds has an ideal profile and second generation drugs do not appear to present unequivocal advantages in this regard. Compared to first generation drugs, some newer generation antiepileptic drugs may be preferred as they have similar efficacy but lower potential for idiosyncratic reactions and drug interactions. However, more recent antiepileptic drugs also have limitations, which include lack of superiority and, in some cases, unbearable adverse effects. In this light, there are no standard criteria as a reference for the selection of the best comparator for new mono‐therapy trials. However, according to the recommendations of evidence‐based guidelines, carbamazepine still represents the first‐choice drug for patients with partial epilepsy. Ethosuximide may be an option for absence epilepsy. In contrast, for the treatment of patients with other generalised epilepsies, there is no clear indication of preferred drug, as valproate, which has been found to prevail over other compounds, should be withheld in women of childbearing age due to its teratogenic potential, and there is insufficient evidence to choose an alternative drug.
Patient and physician preferences: impact on treatment effectiveness*
Authors: Rheims Sylvain , Ryvlin Philippe 
Published: August 2019

ABSTRACTThe greater reliability of randomised controlled trials (RCTs) over non‐randomised studies to objectively assess efficacy and/or safety of new therapeutic interventions is one of the main paradigms which sustains the evidence‐based decision process in clinical practice. This assumption is primarily based on the hypothesis that randomisation, and particularly blinding procedure, drastically reduces the potential bias related to the preferences of patients and physicians. However, from non‐randomised studies to double‐blind, placebo‐controlled RCTs, the preferences of patients and physicians can impact the evaluation of treatment effectiveness. Both internal validity and external validity of RCTs are impacted by various biases related to patient and physician preferences. Thus, influence of patient and physician expectations on trial outcomes might be much less trivial than expected, both in open‐label and double‐blind, placebo‐controlled, randomised trials. Accordingly, it might be interesting to systematically collect information about patient preferences before randomisation, using dedicated questionnaires, in order to be able to evaluate the impact of non‐preferred allocation on trial results.
Increasing off‐time improves sleep‐disordered breathing induced by vagal nerve stimulation
Authors: Bhat Sushanth , Lysenko Liudmila , Neiman Eli S , Rao Gautami K , Chokroverty Sudhansu 
Published: August 2019

ABSTRACTVagal nerve stimulation (VNS) has been reported to adversely impact breathing in sleep. While continuous positive airway pressure is often employed to treat these patients, little data exist on the effects of adjusting various settings on VNS‐induced sleep‐disordered breathing. We describe a patient in whom increasing off‐time caused resolution of VNS‐induced arterial oxygen desaturations in sleep, which we believe is a novel observation.
Discontinuation of antiepileptic drugs after successful surgery: who and when?
Authors: Tellez‐Zenteno Jose F , Hernandez‐Ronquillo Lizbeth , Moien‐Afshari Farzad 
Published: August 2019

ABSTRACTSurgery is a highly effective treatment for some specific types of refractory epilepsy and once seizure freedom is achieved many patients and clinicians have to ponder whether to taper or discontinue antiepileptic drugs (AEDs). However, there is no standard practice or guidelines and practices vary widely. The few studies that have addressed this question are retrospective and lack randomised, controlled comparisons, making it difficult to draw any solid inferences. This review examines this topic by analysing key data based on the following: controlled studies which compare outcomes in patients with either withdrawn or unmodified AEDs after epilepsy surgery, non‐controlled studies, information from meta‐analyses and systematic reviews, surveys of clinical practice, and other relevant reviews. Between 12 and 32% of patients had seizure relapse following tapering or discontinuation of AEDs, which was not significantly different from 7 to 45% in patients without AED modification. In the event of seizure relapse upon tapering of AEDs, 45‐92.3% restarted AED treatment and regained seizure freedom. The most consistent risk factors for seizure relapse were: age older than 30 years at the time of surgery, persistent auras, early drug tapering, seizure recurrence before a reduction of drugs, normal MRI, a longer period with epilepsy, absence of hippocampal sclerosis, and the presence of interictal discharges on EEG after surgery.
Epileptic diaphragm myoclonus
Authors: Hahn Andreas , Neubauer Bernd A 
Published: August 2019

ABSTRACTPersistent 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

ABSTRACTNonconvulsive 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

ABSTRACTGastaut 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

ABSTRACTStartle 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

ABSTRACTAims. 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

ABSTRACTBackgroundParoxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements.MethodsWe describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia.ResultsParoxysmal 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.ConclusionParoxysmal 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

ABSTRACTEpisodes 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]