bluuebunny/crossref_metadata_2025_split huggingface dataset:
Electroclinical, MRI and surgical outcomes in 100 epileptic patients with type II FCD
Authors: Tassi Laura , Garbelli Rita , Colombo Nadia , Bramerio Manuela , Russo Giorgio Lo , Mai Roberto , Deleo Francesco , Francione Stefano , Nobili Lino , Spreafico Roberto 
Published: August 2019

ABSTRACTFocal cortical dysplasias (FCDs) are highly epileptogenic malformations associated with drug‐resistant epilepsy, susceptible to surgical treatment. Among the different types of FCD, the type II includes two subgroups based on the absence (IIa) or presence (IIb) of balloon cells. The aim of this retrospective study was to investigate possible differences in electroclinical presentations and surgical outcomes between the two subgroups in 100 consecutive surgically treated patients with type II FCDs. All patients underwent a comprehensive presurgical assessment including stereo‐EEG (SEEG) when necessary. No significant differences in gender, age at epilepsy onset, duration of epilepsy, age at surgery or seizure frequency were found between the two subgroups. Patients with type IIb FCD frequently showed sleep‐related epilepsy. Their peculiar electrographic pattern was characterised by localised rhythmic or pseudo‐rhythmic spikes or polyspikes (“brushes”) enhanced during non‐REM sleep and also associated with well‐localised, brief, low‐voltage fast activity. The incidence and frequency of short bursts of fast discharges, interrupted by activity suppression, increased during slow‐wave sleep and often recurred pseudoperiodically. The occurrence of “brushes”, present in 76% of the patients with type IIb FCD, was significantly associated (p<0.001) with the presence of balloon cells. We discuss the possible pathogenetic mechanisms underlying this activity. MRI diagnosis of type II FCD was made in 93% of the patients with balloon cells (BCs), suggesting that the presence of balloon cells might be, at least partially, responsible for the MRI features. Patients had very good postsurgical outcomes (83% in Engel class I) even after a long period of follow‐up.
Successful treatment of POLG‐related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet
Authors: Martikainen Mika H , Päivärinta Markku , Jääskeläinen Satu , Majamaa Kari 
Published: August 2019

ABSTRACTEpilepsy is a common manifestation of mitochondrial disease associated with mutations of the mitochondrial polymerase γ (POLG). Prognosis of mitochondrial epilepsy is often poor and there are few reports of successful treatment of POLG‐related epilepsy. We describe a 26‐year‐old woman who experienced severe headache during a three‐day period, followed by symptoms of visual flashing, speech difficulty, and generalised seizures. EEG recording showed non‐convulsive status epilepticus (left occipital area) and brain MRI revealed parieto‐occipital T2‐hyperintensities. Visual aura and aphasia persisted despite antiepileptic medication with phenytoin, oxcarbazepine, and levetiracetam. Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. The patient was then set on a low glycaemic index treatment (LGIT) variant of the ketogenic diet, after which the headaches, aphasia, and visual aura progressively improved and disappeared. She returned home two weeks after onset of symptoms and has not had further seizures. She continues to receive levetiracetam monotherapy and LGIT. We conclude that, at least for this patient, the combination of three antiepileptic drugs and LGIT is effective and well tolerated as treatment for severe episodes of POLG‐related mitochondrial epilepsy.
Head atonic attacks: a new type of benign non‐epileptic attack in infancy strongly mimicking epilepsy
Authors: Capovilla Giuseppe , Montagnini Alessandra , Peruzzi Cinzia , Beccaria Francesca 
Published: August 2019

ABSTRACTNon‐epileptic attacks (NEAs) are a heterogeneous group of clinical entities which often complicate the differential diagnosis of epilepsy. NEAs usually have a benign course and are limited to a specific period of life. If motor manifestations are strongly suggestive of an epileptic phenomenon, the risk of misdiagnosis is greater. Here, we describe a novel NEA with infantile onset, characterised by repeated head drops, mimicking epileptic negative myoclonus of the neck. The frequency of the episodes was very high, at hundreds or thousands per day. The episodes appeared in the second semester of the first year of life and spontaneously disappeared within a few months. [Published with video sequences]
Intracranial video‐EEG and surgery for focal atonic seizures
Authors: Donadío Martín , Ugarnes Gabriela , Segalovich Mónica , Arakaki Naomi , Gonzalez Federico Sanchez , Petre César , Pomata Hugo , D'Giano Carlos 
Published: August 2019

ABSTRACTAtonic seizures are epileptic attacks characterised by a sudden loss or diminution of muscle tone. Structures corresponding to inhibitory cortical areas, such as the primary negative motor area or the supplementary negative motor area, could be responsible. We present findings observed in a patient with atonic seizures due to focal epilepsy, who underwent intracranial video‐EEG monitoring and epilepsy surgery, and discuss possible underlying mechanisms. [Published with video sequences]
Pure epileptic headache and related manifestations: a video‐EEG report and discussion of terminology
Authors: Cianchetti Carlo , Pruna Dario , Porcu Lucia , Peltz Maria Teresa , Ledda Maria Giuseppina 
Published: August 2019

ABSTRACTWe present the first video‐EEG recording of episodes of “epileptic headache”. The case reported is that of a 9‐year‐old girl with brief episodes (of a few minutes) of severe frontal headache, which corresponded to the presence of concurrent spikes and slow waves, starting in the right temporal area. A dysplastic lesion of the right temporal lobe was observed by MRI and the patient received surgery, with subsequent disappearance of headaches. This case highlights ictal EEG as the main diagnostic tool for epileptic headache. We discuss the terminology regarding this type of manifestation and believe that cases without subsequent epileptic manifestations, as in the present case, should be more appropriately referred to as “pure ictal epileptic headache” or simply “pure epileptic headache”. [Published with video sequences]
Misleading features of neuroimaging and electroencephalography: insulinoma misdiagnosed as temporal lobe epilepsy
Authors: Aupy Jérôme , Benoilid Aurélien , Sarhan Maysa , Dalvit Constanza , Valenti Maria‐Paola , Hirsch Edouard 
Published: August 2019

ABSTRACTEpilepsy is a common disorder but diagnosis remains largely clinical. Although MRI and EEG significantly aid the diagnosis of epilepsy, these techniques may also be misleading and indicate abnormalities not related to phenomenology. Consequences of erroneous diagnosis of epilepsy may lead to aggressive and escalating pharmacotherapy with potentially serious side effects. Metabolic disorders, which may mimic epilepsy, should always be considered as they are potentially curable and may be fatal if untreated. We report a case of an insulinoma, misdiagnosed as temporal lobe epilepsy. We highlight the risks associated with misinterpretation of neuroimaging and EEG and outline an approach to differentiate between symptoms of insulinoma or neuroglycopenia and temporal epileptic seizures.
Spatiotemporal profiles of focal and generalised spikes in childhood absence epilepsy
Authors: Kokkinos Vasileios , Koupparis Andreas M , Tsiptsios Dimitrios , Kostopoulos George K , Koutroumanidis Michalis 
Published: August 2019

ABSTRACTThe EEG in childhood absence epilepsy (CAE) may contain focal and generalised spike‐wave discharges (SWDs) with focal, mainly frontal, “lead‐in”. The term “frontal absence” has been used to imply fast, secondary, 3‐Hz generalisation from occult frontal foci with potential impact on clinical EEG interpretation and syndrome classification. The aim of this study was to investigate the relationship between focal and generalised SWDs. We studied five children with CAE and examined a sufficient number of focal (“interictal”) and generalised SWDs in order to obtain reliable analysis. All generalised SWDs with focal lead‐in were “decomposed” into their “pre‐generalisation” focal and “generalised” constituents, which were studied separately. Two types of focal SWD (“interictal” and “pregeneralisation”) and generalised SWD were visually clustered into groups, waveform‐averaged, and plotted in the 2D‐electrode space. Spatiotemporal analysis demonstrated a variety (mean: 4.2 per child; SD: 2.12) of mainly frontal and occipital locations for pre‐generalisation focal SWDs with propagation along the longitudinal axis in either direction and across homologous sites. Interictal focal SWDs demonstrated similar spatiotemporal characteristics. In contrast, the topography and propagation patterns of the first generalised spike of the SWD showed less variability (mean: 2.5 per child; SD: 2.07), mainly involved the fronto‐temporal/temporal areas, and correlated poorly (<10%) with that of the pre‐generalisation focal SWD. Our findings suggest that the process of generalised epileptogenesis in genetic epilepsies with electrographic “frontal absences” is far more complex than that proposed by the model for occult frontal focus with fast secondary generalisation. (Published with Supplemental data)
Hypohidrosis induced by topiramate in an adult patient
Authors: Karachristianou Styliani , Papamichalis Evangelos , Sarantopoulos Alexandros , Boura Panagiota , Georgiadis George 
Published: August 2019

ABSTRACTHypohidrosis is an uncommon and reversible side effect of topiramate treatment, reported mainly in children. This report presents an adult patient with complex partial seizures who was treated with topiramate and developed hypohidrosis coupled with hyperthermia, related to high environmental temperature and physical exercise. Reduced sweat response was confirmed using the Neuropad test. Signs and symptoms ceased after drug discontinuation. During topiramate treatment, it is important to recognise this side effect, although the exact causal mechanism has not yet been clarified.
Valproic acid‐induced hyperammonaemic coma and unrecognised portosystemic shunt
Authors: Nzwalo Hipólito , Carrapatoso Leonor , Ferreira Fátima , Basilio Carlos 
Published: August 2019

ABSTRACTHyperammonaemic encephalopathy is a rare and potentially fatal complication of valproic acid treatment. The clinical presentation of hyperammonaemic encephalopathy is wide and includes seizures and coma. We present a case of hyperammonaemic coma precipitated by sodium valproate use for symptomatic epilepsy in a patient with unrecognised portosystemic shunt, secondary to earlier alcoholism. The absence of any stigmata of chronic liver disease and laboratory markers of liver dysfunction delayed the recognition of this alcohol‐related complication. The portal vein bypass led to a refractory, valproic acid‐induced hyperammonaemic coma. The patient fully recovered after dialysis treatment.
Levetiracetam add‐on therapy in Japanese patients with refractory partial epilepsy
Authors: Tanaka Shigeya , Tanaka Tatsuya 
Published: August 2019

ABSTRACTThe aim of this observational study was to obtain information regarding efficacy and safety of add‐on levetiracetam (LEV; n=32) in Japanese patients with refractory partial seizures in an everyday clinical setting, relative to control AEDs (n=30). This is the first study of LEV add‐on therapy conducted in Japan since approval was made. The medical charts of patients were retrospectively reviewed. The efficacy variables were seizure freedom and ≥50% reduction in seizure frequency. A significantly higher response to LEV was demonstrated in patients with all seizure types at base‐line, relative to control AEDs. In patients with a duration of epilepsy of at least 10 years, significant effects in response to LEV were demonstrated with regards to efficacy variables, relative to control AEDs, thus providing meaningful results. Only two patients (6.2%) discontinued LEV treatment due to worsening of seizures, but no discontinuation was reported due to adverse events. LEV as add‐on therapy to other AEDs is a promising useful treatment option for patients with refractory partial seizures without notable effects on safety, indicating that this treatment regimen might be recommended for such patients.
Management and monitoring of patients treated with zonisamide: the OZONE study
Authors: Dupont Sophie , Biraben Arnaud , Lavernhe Gilles , Marquet Thierry , Allaf Bashar 
Published: August 2019

ABSTRACTAimTocharacterise patients treated with zonisamide in everyday practice and describe the effectiveness and tolerability of treatment.MethodsThis was an observational, longitudinal, naturalistic study, conducted by neurologists in France. Patients who had started zonisamide treatment at least three months prior to inclusion were eligible. Data were collected at routine consultations at inclusion (Visit 1) and three to six months later (Visit 2). At Visit 1, investigators documented epilepsy‐related variables based on patient records before initiation of zonisamide and at inclusion. At Visit 2, the investigators re‐evaluated seizure activity and rated effectiveness. Adverse events were also documented.ResultsA total of 428 patients were included in the study based on evaluation by 132 neurologists. Zonisamide was initiated at a daily dose of 50 mg and 25 mg in 61% and 31.8% of patients, respectively. The median maintenance dose was 300 mg/day. Prior to initiation of zonisamide, the mean seizure frequency was 16.0 seizures/month. This was reduced to 8.7 seizures/month at Visit 1 and to 7.1 seizures/month at Visit 2. The response rate and proportion of seizure‐free patients was 61.9 and 31.1% at Visit 1 and 65.9 and 25.6% at Visit 2, respectively. The frequency of seizures at Visit 2 decreased significantly (p<0.05) for all seizure type subgroups, except for simple partial seizures. Responder rates were >60% for all analysed subgroups. The proportion of seizure‐free patients was significantly higher in patients receiving bitherapy, compared to the others (p=0.007). The most frequently reported adverse event was somnolence (5.1%); three serious adverse events were reported.ConclusionIn everyday practice, zonisamide is principally used in association with other antiepileptic drugs for the treatment of focal epilepsy in adults. It is effective in improving seizure control and quality of life, and is generally well‐tolerated.
Presentation, diagnosis and treatment of bilateral Rasmussen's encephalitis in a 12‐year‐old female
Authors: Peariso Katrina , Standridge Shannon M , Hallinan Barbara E , Leach James L , Miles Lili , Mangano Francesco T , Greiner Hansel M 
Published: August 2019

ABSTRACTAimTo describe the clinical course and pathological diagnosis of a 12‐year‐old female who presented with an acute syndrome of right hemispheric epilepsy and cortical dysfunction and brain MRI demonstrating atrophy of the left cerebral and right cerebellar hemispheres.ResultsThe patient presented with occasional partial seizures consisting of a left calf sensation followed by left leg clonic jerking. Initial brain MRI showed left cerebral and right cerebellar atrophy with T2 hyperintensity in the left parietal region. After six months, the seizure frequency increased and semiology evolved to include frequent clonic movements of the left side of the face, arm and leg and epilepsia partialis continua (EPC) of the left arm and leg. There was progressive weakness of the left leg and, to a lesser extent, her left arm. MRI at this time demonstrated an additional T2 hyperintensity in the right frontal lobe. An extensive evaluation for paraneoplastic, mitochondrial, and genetic epilepsy syndromes was unrevealing. On biopsy evaluation, chronic T‐cell mediated encephalitis was demonstrated within bilateral frontal lobes. Treatment with immunomodulatory therapy resulted in some improvement in her seizure frequency and motor function.ConclusionRasmussen's encephalitis can be a challenging diagnosis. The patient's clinical history, including EPC, with bilateral frontal lobe biopsies confirming a T‐cell mediated encephalitis supports a diagnosis of bilateral Rasmussen encephalitis. This case highlights the diagnostic challenges and treatment dilemmas that arise in an adolescent presenting with bilateral inflammatory lesions of Rasmussen's encephalitis. [Published with video sequences]
Epileptic and electroencephalographic manifestations of guanidinoacetate‐methyltransferase deficiency
Authors: Mikati Abdul G. , Gheida Ibrahim Abu , Shamseddine Alhan , Mikati Mohamad A , Karam Pascale E 
Published: August 2019

ABSTRACTAim. Describe the seizure‐related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature. Methods. We reviewed the clinical and electroencephalographic manifestations of two siblings with GAMT deficiency. We also performed a thorough literature review of all cases of GAMT deficiency, using the PubMed database, and compared our findings to those previously reported. Results. One sibling presented with Lennox‐Gastaut syndrome while the second had manifestations of late‐onset West syndrome. Based on a literature search, we found that the clinical picture of GAMT deficiency has been described in a total of 58 cases, including our two patients, 45 of whom had at least some description of EEG and/or seizure manifestation. Epilepsy was present in 81%, with age at onset usually between 10 months and 3 years. Drug resistance was observed in approximately 45%. Initial seizures were febrile, tonic, or tonic‐clonic. Drop attacks and generalised seizures were the most frequent seizure type. Absence and febrile seizures also occurred. Less frequently, focal seizures and late‐onset infantile spasms (one prior case) were observed. Multifocal spikes and generalised <3‐Hz‐spike slow waves were common while only one prior single case report of hypsarrhythmia was described. Lennox‐Gastaut syndrome was common, while progressive myoclonic epilepsy was also, less frequently, reported. Conclusions. To our knowledge, this is the second report of the occurrence of West syndrome in GAMT deficiency. The majority of patients with GAMT deficiency have seizures and approximately half are drug‐resistant. Late‐onset of hypsarrhythmia and/or epileptic spasms could potentially prove to be a distinctive, albeit infrequent, feature of this treatable metabolic disorder.
Pyridoxine‐dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome
Authors: Oliveira Renata , Pereira Cristina , Rodrigues Fidjy , Alfaite Claudia , Garcia Paula , Robalo Conceição , Fineza Isabel , Gonçalves Olavo , Struys Eduard , Salomons Gajja , Jakobs Cornelis , Diogo Luísa 
Published: August 2019

ABSTRACTWe report 4 pyridoxine‐dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine‐dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were taking pyridoxine treatment and were seizure‐free. Elevated urinary alpha‐aminoadipic semialdehyde excretion was found in all patients. Antiquitin gene analysis identified a large homozygous deletion in one patient and two heterozygous mutations in the others. Treatment with pyridoxine should be attempted for all cases of infantile and childhood refractory epilepsy, as has been the case over the last 20 years. Currently, urinary alpha‐aminoadipic semialdehyde is a reliable biomarker of pyridoxine‐dependent epilepsy, even under pyridoxine treatment. Detection of mutations in the antiquitin gene, encoding alpha‐aminoadipic semialdehyde dehydrogenase, establishes the diagnosis and allows for adequate genetic counselling.
Epileptic spasms without hypsarrhythmia in infancy and childhood: tonic spasms as a seizure type
Authors: De Marchi Luciana R , Seraphim Evelyn A , Corso Jeana T , Naves Pedro VF , de Carvalho Kelly Cristina , Ramirez Milton David H , Ferrari‐Marinho Taissa , Guaranha Mirian SB , Yacubian Elza Márcia T 
Published: August 2019

AbstractEpileptic spasms were defined by the International League Against Epilepsy Task Force on Classification and Terminology in 2001 as a specific seizure type. Epileptic spasms without hypsarrhythmia have been described in some series of patients, occurring either in infancy or childhood. More prolonged epileptic spasms without hypsarrhythmia were previously defined as a different seizure type, and referred to as “tonic spasm seizures”. Here, we present a 5‐year‐old boy who started having epileptic spasms without hypsarrhythmia at 8 months of age, effectively treated with oxcarbazepine. With the withdrawal of medication, epileptic spasms returned. Video‐EEG monitoring revealed high‐voltage slow waves superimposed by low‐voltage fast activity, followed by an electrodecremental phase and a burst of asymmetric fast activity, time‐locked to clinical tonic spasm seizures. Brain MRI showed left temporal atrophy with temporal pole grey/white matter junction blurring and ictal PET‐CT showed left basal frontal hypermetabolism. Seizures were refractory to several AEDs and vigabatrin was introduced with seizure cessation. Despite efforts to classify epileptic spasms, these are still considered as part of the group of unknown seizure types. In some cases, a focal origin has been suggested, leading to the term “periodic spasms” and “focal spasms”. In this case, epileptic spasms without hypsarrhythmia, associated with tonic spasms, may be a variant of focal spasms and might be considered as an epileptic syndrome. [Published with video sequence]
Cognitive impairment in epilepsy: the role of network abnormalities
Authors: Holmes Gregory L 
Published: August 2019

AbstractThe challenges to individuals with epilepsy extend far beyond the seizures. Co‐morbidities in epilepsy are very common and are often more problematic to individuals than the seizures themselves. In this review, the pathophysiological mechanisms of cognitive impairment are discussed. While aetiology of the epilepsy has a significant influence on cognition, there is increasing evidence that prolonged or recurrent seizures can cause or exacerbate cognitive impairment. Alterations in signalling pathways and neuronal network function play a major role in both the pathophysiology of epilepsy and the epilepsy comorbidities. However, the biological underpinnings of cognitive impairment can be distinct from the pathophysiological processes that cause seizures.