bluuebunny/crossref_metadata_2025_split huggingface dataset:
Anatomo‐electro‐clinical correlations: the Innsbruck, Austria Case Report Case 01‐2009: Successful surgery in late onset epilepsy with tuberous sclerosis complex
Authors: Unterberger Iris , Kuchukhidze Giorgi , Walser Gerald , Dobesberger Judith , Koppelstaetter Florian , Ortler Martin , Bauer Richard , Trinka Eugen 
Published: August 2019

ABSTRACT[Case records of Epileptic Disorders. Anatomo‐electro clinical correlations. Case 01‐2009]. Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, caused by mutations in one of the two tumor suppressor genes, TSC1 or TSC2. Epilepsy is the most common neurological presentation and seizures are often medically intractable. Definition of the epileptogenic zone during presurgical evaluation is challenging given the multiple potentially epileptogenic lesions visible on MRI. However, TSC patients may nevertheless achieve seizure freedom, when preoperative evaluation yields concordant results. The strategies used in these patients vary substantially among different epilepsy surgery centres. We present a 21‐year‐old right‐handed, intellectually not impaired woman with TSC and medically intractable seizures since the age of 15 years. Careful multi‐stage presurgical evaluation, including prolonged video‐EEG‐monitoring, cerebral high resolution MRI, ictal and interictal [99m Tc]HMPAO‐SPECT, [18 F]FDG‐PET and further invasive recordings with subdural and depth electrodes led to the identification of an epileptogenic tuber with concordant seizure onset zone in the right neocortical temporal lobe. A tailored resection was performed leading to excellent surgical outcome (follow‐up 12 months, Engel class I).
Complex partial status epilepticus revealing anti‐NMDA receptor encephalitis
Authors: Bayreuther Caroline , Bourg Véronique , Dellamonica Jean , Borg Michel , Bernardin Gilles , Thomas Pierre 
Published: August 2019

ABSTRACTEncephalitis with anti‐NMDA receptor antibodies is a recently‐recognised form of paraneoplastic encephalitis characterized by a prodromal phase of unspecific illness with fever resembling viral disease, followed by memory loss, psychiatric features, seizures, disturbed consciousness, prominent abnormal movements and autonomic imbalance. Association with ovarian teratoma is common. Neurological outcome can be good, especially when surgery is performed at an early stage. Here, we report a case of anti‐NMDA receptor encephalitis associated with ovarian teratoma presenting with inaugural complex partial status epilepticus. The nature of abnormal movements at early stages was unclear and abnormal movements were misinterpreted as the recurrence of partial epileptic seizures. Despite its rarity, all clinicians treating epilepsy and movement disorders should be familiar with anti‐NMDA receptor encephalitis, that appears to be a very severe but curable disease. [Published with video sequences]
Acetaminophen toxicity with concomitant use of carbamazepine
Authors: Jickling Glen , Heino Angela , Ahmed S. Nizam 
Published: August 2019

ABSTRACTAcetaminophen is a widely used analgesic that can cause acute liver failure when consumed above a maximum daily dose. Certain patients may be at increased risk of hepatocellular damage even at conventional therapeutic doses. We report a case of a 34‐year‐old man on carbamazepine for complex partial seizures who developed acute liver and renal failure on less than 2.5 grams a day of acetaminophen. This raises caution that patients on carbamazepine should avoid chronic use of acetaminophen, and if required use at lower doses with vigilant monitoring for signs of liver damage.
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation
Authors: Carreño Mar , Garcia‐Alvarez Dionisio , Maestro Iratxe , Fernández Santiago , Donaire Antonio , Boget Teresa , Rumià Jordi , Pintor Luis , Setoain Xavier 
Published: August 2019

ABSTRACTAutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a familial partial epilepsy syndrome characterized by seizures suggesting a frontal lobe origin occurring predominantly during sleep. Up to a third of patients may have refractory seizures, with repeated episodes of status epilepticus, intellectual disability of variable degree and psychiatric disturbances. We report a patient with ADNFLE, refractory seizures and repeated episodes of life‐threatening convulsive status epilepticus who underwent prolonged video‐EEG monitoring and was implanted with a vagal nerve stimulator. At 3.5 years of follow‐up, a decrease of more than 80% in seizure frequency was achieved, episodes of status were completely controlled and he displayed improved mood and alertness. Vagal nerve stimulation may be considered as therapy for patients with refractory epilepsies of genetic cause, as well as repeated status epilepticus.
Epilepsy in children with Down syndrome
Authors: Arya Ravindra , Kabra Madhulika , Gulati Sheffali 
Published: August 2019

ABSTRACTThis review discusses the various aspects of epilepsy in Down syndrome (DS) from the perspective of paediatric neurology. DS is the most common genetic cause of mental retardation (MR) with a reported prevalence of epilepsy of 1‐13%. Infantile spasms (IS) or West syndrome (WS) is the most frequent epilepsy syndrome in children with DS. IS occur in 0.6‐13% of children with DS, representing 4.5‐47% of seizures in these children. Curiously, these patients have electroencephalographic (EEG) characteristics of idiopathic rather than symptomatic WS. Despite a lack of consensus on therapeutic approach, no significant difference has been reported among the different regimens with regards to achieving clinical remission or EEG normalisation. It appears that DS patients have better seizure control compared to other patients with symptomatic IS, and early initiation of appropriate treatment may contribute to the prevention of late seizure development and better developmental outcome. Lennox‐Gastaut syndrome (LGS) also exhibits some distinctive features in children with DS including later onset and high incidence of reflex seizures. Other seizure types including partial and generalised tonic clonic seizures have also been described in children with DS. There is a high rate of EEG abnormalities in children with DS, even among children without epilepsy, however, no patterns specific to DS have been identified and EEG does not correlate with outcome. Various cellular and molecular mechanisms contribute to epileptogenesis in DS and offer an interesting field of study.
Video atlas of lateralising and localising seizure phenomena
Authors: Stoyke Cordula , Bilgin Özgür , Noachtar Soheyl 
Published: August 2019

ABSTRACTThe detailed analysis of seizure semiology is an essential tool for diagnosing epileptic patients and is particularly important in the evaluation of patients considered for epilepsy surgery. The meticulous clinical observation of epileptic seizures provides information about the localisation and lateralisation of the symptomatogenic zone. Here, we present a video atlas showing a variety of ictal and postictal localising and lateralising phenomena. [Published with video sequences]
Shaking body attacks: a new type of benign non‐epileptic attack in infancy
Authors: Capovilla Giuseppe 
Published: August 2019

ABSTRACTNon‐epileptic attacks represent a heterogeneous group of clinical entities which frequently pose a challenge for the differential diagnosis of epilepsy. This is particularly the case when motor manifestations are the main clinical features. For the large majority of patients, such motor manifestations have a benign course. A correct diagnosis is important to avoid inappropriate investigations, unnecessary therapy, and parental anxiety.Here, a previously unreported form of non‐epileptic attacks with infantile onset is described which is different from all subtypes of Fejerman syndrome and does not appear to be uncommon. Our series includes 23 patients with an age at onset of the paroxysmal events ranging from 3 to 8 months. The characteristic feature is side‐to‐side shaking movements of the trunk and limbs. Surprisingly, urinary infection is often a false diagnosis. Home video recording is particularly helpful in recognising the nature of these episodes once their existence is known. [Published with video sequences]
Recurrent occipital seizures misdiagnosed as status migrainosus
Authors: Italiano Domenico , Grugno Rosario , Calabrò Rocco Salvatore , Bramanti Placido , Di Maria Franco , Ferlazzo Edoardo 
Published: August 2019

ABSTRACTPeriictal headache is commonly reported in patients with epilepsy and often exhibits migraine features. Misdiagnosis is frequent since visual seizures may often be misinterpreted as visual aura of migraine. We herein describe a 35‐year‐old woman with recurrent occipital seizures, clinically presenting with intractable headache. EEG monitoring was crucial in order to reach the correct diagnosis.
Possible genetic anticipation in families with idiopathic generalised epilepsy
Authors: Cvetkovska Emilija , Panov Sasho 
Published: August 2019

ABSTRACTIdiopathic generalised epilepsies (IGE) constitute nearly one third of all epilepsies. IGEs manifest with absences, myoclonic jerks and generalised tonic‐clonic seizures (GTCS), either alone or in varying combinations, and have a strong genetic background. We present two three‐generation families with juvenile myoclonic epilepsy (JME) probands and other affected family members with different forms of IGE in whom genetic anticipation was possible, i.e. the progressive decrease in age at onset with each successive generation. In the first family, the proband presented with JME with all three seizure types with an age at onset of eight years. Her cousin presented with both absence seizures and myoclonic jerks simultaneously at age 14 years, and GTCS occurred one year later. The proband's mother had her first seizures at the age of 39 years (brief myoclonic jerks and subtle absences predated GTCS by a few months). In the second family, the proband and his younger brother presented with JME at the age of 13 years, their mother experienced a single GTCS at the age of 38 years, while the grand‐mother died during de novo generalised status at the age of 62 years. To our knowledge, this is one of the few reports to describe the occurrence of possible genetic anticipation in IGE which should be further investigated in larger cohorts of patients.
Perioral myoclonia with absences and myoclonic status aggravated by oxcarbazepine
Authors: Vrielynck Pascal , Rostomashvili Nino , Degroote Elodie , Ghariani Sophie , van Rijckevorsel Kenou 
Published: August 2019

ABSTRACTPerioral myoclonia with absences belongs to the “idiopathic generalised epilepsy syndromes in development”, currently not yet cited in the ILAE classification. This epilepsy syndrome is associated with a seizure type that appears to be specific. Here, we report polygraphic recordings of this seizure type in a young boy, previously misdiagnosed with focal epilepsy. EEG and clinical features were useful to differentiate diagnosis of his seizures from other absence or myoclonic seizures. Interestingly, some seizures were associated with neck myoclonia. Home video recording of myoclonic status aggravated by inappropriate treatment is also presented. [Published with video sequences]
Definition of the neurological phenotype associated with dup (X)(p11.22‐p11.23)
Authors: Broli Marcella , Bisulli Francesca , Mastrangelo Massimo , Fontana Elena , Fiocchi Isabella , Zucca Claudio , Bonaglia Maria Clara , Buono Serafino , Musumeci Sebastiano Antonino , Romano Corrado , Reitano Santina , Savio Maria , Vitello Girolamo Aurelio , Bernardi Bruno , Cevolani Daniela , Agati Raffaele , Poda Roberto , Gallassi Roberto , Giorda Roberto , Zuffardi Orsetta , Bernardina Bernardo Dalla , Seri Marco , Tinuper Paolo 
Published: August 2019

ABSTRACTThe aim of this study was to describe in detail the neurological features of nine patients carrying the recently reported microduplication at Xp11.22‐11.23. Clinical and neurological examination, brain magnetic resonance imaging (except for two patients), electroencephalography and a neuropsychological assessment specific for language disturbances were performed in nine patients with microduplication at Xp11.22‐11.23, disclosed by comparative genomic hybridisation array. Six patients were familial cases belonging to three unrelated pedigrees and three were sporadic cases. The patients had the following characteristics: mild dysmorphic facial features (except for two patients), mental retardation with moderate to severe global language deterioration, electroencephalographic epileptiform discharges during wakefulness and especially during sleep or electrical status epilepticus during slow sleep in younger cases, and negative brain magnetic resonance imaging. The main clinical features of this new microduplication syndrome were mild facial dysmorphisms, from increased electroencephalogram abnormalities during sleep to electrical status epilepticus during slow sleep, and mental retardation mainly involving language function in the absence of detectable brain lesions. In the absence of detectable brain lesions, speech delay may be associated with electrical status epilepticus during slow sleep or, alternatively, related to abnormal brain expression of a dosage‐sensitive gene contained within the duplication region.
Lessons learned from a comparison of language localisation using fMRI and electrocortical mapping: case studies of neocortical epilepsy patients
Authors: Kim Kwang Ki , Privitera Michael D , Szaflarski Jerzy P 
Published: August 2019

ABSTRACTElectrocortical mapping (ECM) is recognised as an established method for localisation of eloquent cortex in patients undergoing resective surgery for epilepsy management. Functional MRI (fMRI) has been utilised for language and other cortical function localisation. We describe language localisation in two patients using both ECM and fMRI. Co‐registration of fMRI and ECM revealed that although two fMRI tasks localised multiple language areas, the verb generation task had an advantage over the semantic decision/tone decision task in that there was a clear overlap between the language areas identified by the verb generation task and ECM. In addition to the language areas detected by ECM, fMRI showed other language‐related areas that may be important for post‐operative language outcome. Therefore, fMRI may provide additional and complementary information to ECM in presurgical evaluation of patients with epilepsy. The correlation between fMRI and ECM may depend on the language testing methods utilised during the procedures.
Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting
Authors: Marino Daniela , Vatti Giampaolo , Rufa Alessandra , Malandrini Alessandro , Rocchi Raffaele , Bracco Sandra , Buccoliero Rosaria , Federico Antonio 
Published: August 2019

ABSTRACTBackground. Periodic lateralised epileptiform discharges (PLEDs) are EEG patterns consisting of periodic or pseudoperiodic unilateral, focal or hemispheric epileptiform discharges at a rate of 1‐2 Hz. PLEDs may be triggered by acute brain injuries or systemic metabolic changes such as fever, hyperglycaemia or electrolyte imbalance and may result in disturbance of consciousness and/or neurological deficits. Case report. A 58‐year‐old female with a history of focal epilepsy and deep brain haematoma presented with acute change in awareness, associated with EEG evidence of PLEDs, three days after a left internal carotid artery stenting procedure. Clinical examination, laboratory testing and MRI were unchanged with respect to pre‐stenting investigations. Conclusion. In this patient, PLEDs may have been triggered by local haemodynamic changes due to reperfusion after stenting in a previously damaged brain area.
Presentation of an unusual patient with Lafora disease
Authors: Gökdemir Selim , Çağlayan Hande , Kızıltan Meral , Karaağac Naci , Leblebici Cem , Yeni S Naz 
Published: August 2019

ABSTRACTLafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic‐clonic seizures at the age of 30 is discussed. Until the age of 48, the patient did not have myoclonic jerks or ataxia clinically, but had well controlled seizures. He developed dementia and late extrapyramidal signs. Axillary skin biopsy revealed typical Lafora inclusion bodies. Genetic analysis showed a mutation in the EMP2B gene. To our knowledge, this is the first description of a patient suffering from a Lafora disease without disabling myoclonus and ataxia but rather rare seizures, extrapyramidal signs, and dementia.
Pilomotor seizures: a video case report
Authors: Haykal Mohamad Ayman , Abou‐Khalil Bassel 
Published: August 2019

ABSTRACTPiloerection is a rare ictal manifestation usually associated with temporal lobe epilepsy. We present video and electrographic documentation of pilomotor seizures in a 75‐year‐old man with left temporal lobe epilepsy and remote herpes zoster encephalitis. In general, piloerection is most often localised to the temporal lobe. Unilateral piloerection is usually associated with an ipsilateral ictal onset. Bilateral piloerection has a less certain lateralising value, although earlier reports suggest left hemispheric predominance [Published with videosequences].
Late‐onset, praxis‐induced myoclonic epilepsy
Authors: Glenn Melanie , Carrazana Enrique J , Lopez Maria Raquel , Wallace Douglas M 
Published: August 2019

ABSTRACTPraxis‐induction of seizures is an interesting subset of reflex epilepsy in which seizures are induced by higher mental activities associated with the use of part of the body. Reflex traits have often been described in patients with juvenile myoclonic epilepsy. We report a patient presenting with praxis‐induced myoclonic epilepsy at a late age. Ictal myoclonus was triggered by building a bird house and captured by video‐polygraphic EEG recording. At 39 years old, the patient's age at onset of epilepsy was consistent with the syndrome of adult myoclonic epilepsy. Our case supports the notion of adult myoclonic epilepsy with possible occurrence of praxis‐activation of seizures, as has been noted with the other idiopathic generalised epilepsies. [Published with videosequences]
Clinical trials in acute repetitive seizures and status epilepticus*
Authors: Shorvon Simon 
Published: August 2019

ABSTRACTThis paper reviews the clinical trials in acute repetitive seizures and in tonic‐clonic status epilepticus. There are good randomised controlled studies on the use of benzodiazepines in early status epilepticus, but an inadequate trial base in the later stages. Therapy has therefore to be based on open studies, although in the later stages there is also a dearth of open data. Tonic‐clonic status epilepticus is a medical emergency and a condition with a significant mortality. The lack of information compromises optimal therapy. This paper reviews the reasons for the lack of data and the problems associated with collecting data. It is proposed that, in the first instance, the best way of improving the quality of evidence would be a multinational case registry of existing practice.
Video‐EEG documented lengthy seizure in Panayiotopoulos syndrome: clinical manifestations may be inconspicuous
Authors: Schmidt Gabriela , Zaiwalla Zenobia , Alexopoulou Domna , Panayiotopoulos Chrysostomos P 
Published: August 2019

ABSTRACTA 4‐year‐old boy had an autonomic seizure of Panayiotopoulos syndrome during video‐EEG recording. Interictal EEG showed multifocal spikes in the centrotemporal and left posterior regions. Ictal electrographic onset included fast rhythms in the left posterior regions progressing to a mixture of high‐amplitude spikes and fast and slow rhythms, bilaterally. The clinical symptoms (sighing, arousal with eyes opening, eye‐deviation, and emesis with possible alteration of consciousness) started two minutes after the electrographic onset. These symptoms were mild and their characterisation as epileptic seizure behaviour would have been difficult without the ictal EEG documentation. The clinical manifestations of the child's previous epileptic seizures were mainly from the Rolandic area. [Published with video sequences]
Adversive seizures associated with periodic lateralised epileptiform discharges (PLEDs) after left orbital contusion
Authors: Takeda Takahiro , Osawa Mikio , Toi Sono , Mizuno Satoko , Shimizu Yuko , Uchiyama Shinichiro 
Published: August 2019

ABSTRACTWe report a patient who presented with adversive seizures associated with periodic lateralised epileptiform discharges (PLEDs), a month after head trauma. The PLEDs predominantly involving the left frontal contacts became more frequent at the onset of adversive seizures during EEG. Brain MRI demonstrated a contusion scar in the left orbital cortex with reduced diffusion, not only around this orbital lesion but also in the ipsilateral anteromedial thalamus. Single photon emission computed tomography revealed focal cerebral hyperperfusion in the left medial orbitofrontal region, basal ganglia, and thalamus. The abnormal metabolism involving the thalamus and striatum could be associated with the ipsilateral orbital contusion and might have been caused by cortical‐subcortical, trans‐synaptic hyperactivity. Further studies are warranted to determine the role of subcortical structures in the generation of PLEDs and adversive seizures. [Published with video sequences]
Heterotopic reelin in human nodular heterotopia: a neuropathological study
Authors: Rossini Laura , Tassi Laura , Spreafico Roberto , Garbelli Rita 
Published: August 2019

ABSTRACTAimThe extracellular matrix glycoprotein reelin plays a crucial role in the control of neuronal migration and during development is expressed by Cajal‐Retzius cells in the marginal zone. The purpose of this study was to investigate the possible involvement of reelin in the pathogenesis of human nodular heterotopia, a malformation of cortical development frequently associated with focal drug‐resistant epilepsy.MethodsFive patients presenting with subcortical nodular heterotopia and referred for epilepsy surgery, after a comprehensive presurgical investigation, were considered. The surgical specimens were studied by combining immunohistochemistry, double immunofluorescence, and in situ hybridisation procedures.ResultsThe selected cases were characterised by the presence of multiple nodules presenting in the core cell‐free zones, reminiscent of the cortical molecular layer. In all cases, small reelin‐positive cells, without typical Cajal‐Retzius cell features, were distributed inside the nodules and localised in these cell body‐sparse regions.ConclusionThe presented data corroborate the hypothesis that reelin might be involved in human heterotopic nodular formation.