bluuebunny/crossref_metadata_2025 huggingface dataset:
Mosaicism of a missenseSCN1Amutation and Dravet syndrome in a Roma/Gypsy family
Authors: Azmanov Dimitar N. , Zhelyazkova Sashka , Dimova Petya S. , Radionova Melania , Bojinova Veneta , Florez Laura , Smith Shelagh J. , Tournev Ivailo , Jablensky Assen , Mulley John , Scheffer Ingrid , Kalaydjieva Luba , Sander Josemir W.
Published: August 2019

SCN1A

mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused byde novomutations, 5% inherit a mutation from a mildly affected or symptom‐free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation inSCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
Sleep spindle activity in double cortex syndrome: a case report
Authors: Sforza Emilia , Marcoz Jean‐Pierre , Foletti Giovanni
Published: August 2019

Cortical dysgenesis is increasingly recognised as a cause of epilepsy. We report a case with double cortex heterotopia and secondarily generalized seizures with a generalised spike wave pattern. During the course of the disease, the child developed electrical status epilepticus in slow wave sleep. From the first examination, sleep pattern revealed increased frequency and amplitude of spindle activity, more evident in anterior areas. The role of the thalamocortical pathway in increased sleep spindle activity is discussed with emphasis on the possible role of altered thalamocortical pathways in abnormal cortical migration. A strong suspicion of cortical dysgenesis may therefore be based on specific EEG sleep patterns.
Study of cardiac autonomic function in drug‐naïve, newly diagnosed epilepsy patients
Authors: Mativo Peter , Anjum Javad , Pradhan Cauchy , Sathyaprabha Talakad N. , Raju Trichur R. , Satishchandra Parthasarathy
Published: August 2019

Background

Epilepsy is associated with ictal autonomic dysfunction which may extend into the inter‐ictal period. Antiepileptic drugs have often been blamed for cardiac autonomic dysfunction in epilepsy patients. In this study we have investigated cardiac autonomic parameters in order to evaluate autonomic functions of drug‐naïve epilepsy patients.

Method

Twenty drug‐naïve patients (15 males and 5 females) with epilepsy, and an equal number of age and gender matched controls, were evaluated for short‐term resting heart rate variability and conventional cardiovascular autonomic measurements.

Results

The mean age of patients was 29.30 ± 9.80 yrs (17‐55 yrs), mean age at seizure onset was 19.70 ±9.15 yrs (3‐40 yrs) and mean length of time since last seizure was 5.60 ± 7.00 days (1‐30 days). While there was no difference in the resting heart rate or conventional autonomic test parameters, time domain heart rate variability measurements showed a decreased percentage of R‐R intervals of less than 50 ms and root mean square of R‐R intervals in patients, when compared to controls. Frequency domain parameters showed a decreased total power (patients: 1,796.58 ± 1,052.45 ms2; controls: 2,934.23 ± 1,767.06 ms2, p = 0.008). Parameters indicative of decreased vagal tone, i.e. decreased high frequency power and increased low to high frequency ratio (patients: 1.69 ± 0.94; controls: 1.14 ±0.64, p = 0.045), were observed among patients compared to controls.

Conclusion

Subtle but definite cardiac autonomic dysfunction, especially in vagal tone, was identified in drug‐naïve, new‐onset epilepsy patients. Seizures can cause long‐term and often progressive cardiac autonomic dysfunction which may be independent of concomitant antiepileptic drugs.
Type I focal cortical dysplasia: surgical outcome is related to histopathology
Authors: Tassi Laura , Garbelli Rita , Colombo Nadia , Bramerio Manuela , Russo Giorgio Lo , Deleo Francesco , Milesi Gloria , Spreafico Roberto
Published: August 2019

Pre‐surgical and post‐surgical data were examined and compared from 215 consecutive patients undergoing surgery for intractable epilepsy. Patients were selected on the basis of a proven histopathological diagnosis of type I focal cortical dysplasia (FCD I), alone or associated with other lesions. The patients were divided into five sub‐groups: i) 66 with isolated FCD I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with FCD I and tumours, iv) 16 with FCD I and other malformations of cortical development and v) eight with FCD I and anoxic‐ischaemic or inflammatory diseases. The duration of epilepsy was greatest in patients with FCD I associated with hippocampal sclerosis, and those with isolated FCD I showed the highest seizure frequency at the time of surgery. Hippocampal sclerosis and tumours were the most frequent pathological lesions associated with FCD I in temporal lobe epilepsy. Febrile seizures significantly correlated with the presence of hippocampal sclerosis and FCD I. Isolated FCD I was observed in 31% of the patients, characterized by frequent seizures, negative magnetic resonance imaging, and frequent frontal or multilobar involvement. In comparison to patients with FCD I associated with hippocampal sclerosis, MCD or tumours, the patients with isolated FCD I had a worse post‐surgical outcome (46% in class I). Our findings indicate that there is a high incidence of FCD I associated with other apparently distinct pathologies, particularly those affecting the temporal lobe, and highlight the need for a comprehensive clinicopathological approach for the classification of FCD I.
Bathing epilepsy: a video case of an autonomic seizure
Authors: Jansen Katrien , Vervisch Jan , Lagae Lieven
Published: August 2019

A six‐year‐old Moroccan boy experienced nausea, paleness and oral automatisms after almost every shower. A clinical diagnosis of bathing epilepsy was assumed. A video‐EEG recording was taken during and after a shower and confirmed ictal high voltage repetitive slow waves over the left temporal lobe. Bathing epilepsy or water immersion epilepsy is a rare form of reflex epilepsy often presenting with autonomic seizures. The onset is usually in the first year of life and the evolution is benign. [Published with video sequences]
Refractory epilepsy is highly associated with severe dentoalveolar and maxillofacial injuries
Authors: Costa Andre Luiz F. , Yasuda Clarissa Lin , França Marcondes C. , Morita Marcia Elisabete , Cendes Fernando
Published: August 2019

Background

Dental intrusion and avulsion, crown fracture and mandibular fractures are important dentofacial complications in patients with epilepsy‐related traumas. The objective of the present study was to describe the occurrence of orofacial injuries in patients with epilepsy.

Materials and methods. One hundred and nine consecutive patients (60 women; mean age 38.81 ± 14 years), treated for refractory epilepsy (45 with extratemporal epilepsy and 64 with temporal epilepsy) at the outpatient clinic of our University Hospital, were included in the present study. Orofacial injury occurring as a direct result of a seizure was determined by clinical examination and interview. In addition, seizure frequency, use of medication, and the occurrence and type of injury to other parts of the body, were documented. We employed regression analyses to investigate the association between teeth fractures and frequency of seizures.

Results

The majority of injuries were crown fractures (42 subjects), followed by mandibular fractures (eight subjects) and tooth avulsion (eight subjects). Sixteen patients had more than two fractured teeth. Patients with mandibular trauma also suffered concomitant injuries (teeth fracture, avulsion and dislocation). The number of fractured teeth was associated with seizure frequency (r2 = 0.59, p <0.001). The data suggest that there is an increased rate of dentoalveolar and maxillofacial injuries in patients with poorly controlled epileptic seizures.
Tonic status and electrodecremental paroxysms in an adult without epilepsy
Authors: Ostrow Lyle W. , Kaplan Peter W.
Published: August 2019

Electrodecremental status epilepticus is classically described in infants and children with severe refractory epilepsy, mental retardation, and structural brain abnormalities. We describe a 24‐year‐old woman who presented to the emergency department with prolonged tonic status epilepticus which evolved into stimulus‐induced diffuse voltage attenuation (SIDVA) pattern in the setting of aseptic meningoencephalitis. There was no history of seizures or further events after recovery. This is the first report of a SIDVA pattern in an adult without a history of epilepsy.
Predictive factors for a good prognosis following surgery for temporal lobe epilepsy: a cohort study in Spain
Authors: Forcadas‐Berdusán María Isabel , Bustos‐Sánchez José Luis , Valle‐Quevedo Elena , Obieta Jon Aurrecoechea , Goñi Beatriz Mateos , Martinez‐Indart Lorea , Salazar Ana Molano , Gomez‐Esteban Juan Carlos , Garamendi‐Ruíz Iñigo
Published: August 2019

Objective

To investigate the outcome of temporal lobe epilepsy surgery and identify the variables which predict a good prognosis with respect to seizures in postoperative follow‐up after two and four years.

Methods

This retrospective study included 115 selected patients who underwent surgery for temporal lobe epilepsy between 1996 and 2007.

Results

In the second year after surgery 86.1% of patients had a good prognosis for seizure control (73.9% Engel class I and 12.2% Engel class II) and 89.2% (76.3% Engel class I and 12.9% Engel class II) in the fourth year. Sixty‐four of 93 (68.8%) patients were free of disabling seizures (Engel class I) during the entire period and 78 (83.8%) had good prognosis (Engel class I and II). For the second year, logistic regression analysis revealed the following variables to be independently predictive of good seizure control: absence of two or more seizure episodes in the first year after surgery, normal postoperative video‐EEG, and age at surgery of less than 35 years. In the fourth year, mesial temporal sclerosis, female sex and normal postoperative video‐EEG were the predictive factors. For the group with a good prognosis in both the second and the fourth year, the predictive variables were: absence of two or more seizure episodes in the first year after surgery (OR: 13.762, CI 95%: 2.566‐73.808, p<0.002) and normal postoperative video‐EEG (OR: 16.301, CI 95%: 3.704‐71.740, p<0.001).

Discussion

This study illustrates the sustained benefit of temporal lobe epilepsy surgery. The multivariate logistic regression analysis failed to identify a good predictive model composed of preoperative variables alone, although it was possible to build such a model with either pre‐ and postoperative variables or only postoperative variables.
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister‐Hall syndrome
Authors: Dericioglu Nese , Saygi Serap , Akalan Nejat
Published: August 2019

Pallister‐Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies. Contrary to patients with isolated HH, neurological dysfunction and precocious puberty are uncommon and seizures are usually well controlled with anticonvulsant medication. Therefore, conservative management of HH is advised. To the best of our knowledge, seven cases of PHS with surgical resection of the HH have so far been reported. Five patients were either seizure‐free or had >90% seizure reduction postoperatively. Here, we present a case of PHS of a patient who also underwent transcallosal endoscopic resection of the HH with a subsequent 70% reduction in seizure frequency.
Association analysis of intractable epilepsy with C3435T and G2677T/A ABCB1 gene polymorphisms in Iranian patients
Authors: Sayyah Mohammad , Kamgarpour Fateme , Maleki Mehri , Karimipoor Morteza , Gharagozli Kourosh , Shamshiri Ahmad Reza
Published: August 2019

Objective. The results from studies investigating a possible association between ABCB1 polymorphism and drug‐resistant epilepsy are so far inconsistent. Moreover, recent meta‐analyses studies do not confirm any link between ABCB1 C3435T polymorphism and drug resistance. Yet, if patients with comparable clinical status (same type of epilepsy, antiepileptic drugs, epilepsy onset and gender) are evaluated, the link between ABCB1 polymorphisms and drug resistance may be unmasked. We studied the association between C3435T and G2677T/A ABCB1 gene polymorphisms and drug resistance in Iranian epilepsy patients. Methods. Two hundred healthy subjects and 332 epilepsy patients (200 drug‐responsive and 132 drug‐resistant) were selected. Genotypes were determined by polymerase chain reaction followed by restriction fragment length polymorphism or the amplification refractory mutation system. Results. The risk of drug resistance was higher in patients with a C/T genotype than in those with C/C or T/T genotypes at position 3435 in patients with cryptogenic epilepsy (p=0.01). A higher risk of drug resistance was observed in adult patients with a C/C genotype than in those with a T/T genotype at position 3435 (25.8% vs 15.8%, p=0.01). The risk of drug resistance was also higher in female patients with a C/C genotype than in those with a T/T genotype at position 3435 (26.8% vs 16.3%, p=0.04). No significant association was found between G2677T/A polymorphism and epilepsy drug resistance in the different subgroups of patients. Conclusion. Iranian adult female patients with a C/C genotype at position 3435 of the ABCB1 gene have a higher risk of resistance to antiepileptic drugs. Replication studies with large sample sizes are needed to confirm the results.
Recurrence of childhood absence epilepsy as pyknolepsy in adolescence
Authors: Yozawitz Elissa G. , Scantlebury Morris H. , Robinson Julie , Jehle Rana , Moshé Solomon L.
Published: August 2019

A developmentally normal adolescent boy with a history of childhood absence epilepsy presented with recurrence of pyknolepsy after a seven‐year period of remission. The characteristics of his EEG showed the same 3‐Hz generalised spike‐wave discharge as in his previous EEG in childhood. To our knowledge, this is the first case report describing recurrence of childhood absence epilepsy as pyknolepsy in an adolescent. [Published with video sequences]
Quality of life in patients with partial‐onset seizures under adjunctive therapy with zonisamide: results from a prospective non‐interventional surveillance study
Authors: Helmstaedter Christoph , Stefan Hermann , Witt Juri‐Alexander
Published: August 2019

This prospective, multicenter, non‐interventional surveillance study (ZADE study) explored seizure outcome and tolerability of adjunctive treatment with zonisamide (ZNS) in a non‐selected sample of patients with partial‐onset seizures in everyday clinical practice. Changes in quality of life (QOL) and health status were also recorded. Clinical status was assessed before and 4 months after introduction of ZNS. The herein reported evaluation of QOL and health status was based on a representative subsample of 207 patients. In this subgroup, a reduced QOL had been apparept in 68% of patients at baseline. After introduction of ZNS, all measures improved, with ameliorations in QOL in up to 35% of patients. Major determinants for a better QOL outcome were (1) a better score at baseline, (2) a higher degree of seizure reduction, and (3) a lower number of concomitant AEDs. Tolerability was subjectively rated as good by 89% of patients. With a ZNS dose of 244.8±108 mg/d at study end, seizure frequency had dropped from 8.8±19.2 within 8 weeks before baseline to 3.6±9.1 seizures within the period of 8 weeks before study end. A total of 79% of patients responded to ZNS treatment with a ≥50% reduction in seizure frequency; 34% became seizure free. In conclusion, adjunctive treatment with ZNS seems to be efficacious and well tolerated. QOL improvement was predicted by baseline score, seizure outcome, and overall drug load, and is thus more likely a result of enhanced seizure control, rather than an intrinsic psychotropic effect of zonisamide.
Early‐onset absence epilepsy at eight months of age
Authors: Kobayashi Yu , Akasaka Noriyuki , Ohashi Tsukasa , Saitoh Shinji , Tomonoh Yuko , Hirose Shinichi , Tohyama Jun
Published: August 2019

Early‐onset absence epilepsy refers to patients with absence seizures beginning before age four and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a girl with intractable absence seizures with onset at age eight months. Her seizures were characterised by loss of responsiveness, with eyes drifting upwards and some myoclonic jerks of the upper and lower limbs. These symptoms were accompanied by bilaterally symmetric high‐amplitude 2‐2.5Hz generalised spike‐and‐wave discharges on the electroencephalogram. Her seizures were refractory to conventional antiepileptic drugs; treatment with adrenocorticotropic hormone was transiently effective. Comprehensive metabolic screening, cytogenetic, and genetic analysis did not determine an underlying cause of her condition. Patients with intractable, very early‐onset absence epilepsy with a myoclonic component have an unfavourable outcome and may be classified under a new epileptic syndrome, such as “early infantile absence epilepsy”.
Clinical patterns and pathophysiology of hypermotor seizures: an ictal SPECT study
Authors: Masuda Hiroshi , Shariff Erum , Tohyama John , Murakami Hiroatsu , Kameyama Shigeki
Published: August 2019

Hypermotor seizures (HMS) can include different forms of hypermotor behaviour due to various mechanisms associated with generation of ictal automatisms. Despite the varied location of seizure onset, similar semiologic features during seizures may exist. Ictal single‐photon emission tomography (SPECT) apparently reflects not only the origin of epileptic discharge but also the spread to adjacent cortical areas. Taking this benefit of SPECT studies into account, preoperative SPECT results from 13 patients with HMS who underwent epilepsy surgery were analysed. The radioisotope 99mTc‐ECD was injected in all patients within five seconds after seizure onset. Group analysis was performed with statistical parametric mapping (SPM) of paired ictal‐interictal SPECTs in order to identify regions of significant ictal hyperperfusion. Hyperperfused regions with a corrected cluster‐level significance p‐value of < 0.002 were considered significant. Seizure onset at implanted subdural electrodes was defined as the epileptic focus in 12 of 13 patients. Two patterns were recognized: HMS‐1 with marked agitation and HMS‐2 with mild agitation. Ictal hyperperfusion images revealed significant hyperperfusion in the anterior cingulate cortex, orbito‐frontal gyrus, lentiform nucleus, midbrain and pons. These hyper‐perfused areas represent the symptomatogenic zone which was different from the epileptogenic zone, as confirmed by the favourable outcomes after surgical resection. The present findings suggest that a network, including frontal and possibly extrafrontal brainstem and limbic structures, is involved in the genesis of the complex epileptic manifestations of HMS. Moreover, ictal SPECT analysed by SPM is a useful method for studying the neural networks of different types of seizures.
Upward gaze and head deviation with frontal eye field stimulation
Authors: Kaiboriboon Kitti , Lüders Hans O , Miller Jonathan P , Leigh R John
Published: August 2019

Using electrical stimulation to the deep, most caudal part of the right frontal eye field (FEF), we demonstrate a novel pattern of vertical (upward) eye movement that was previously only thought possible by stimulating both frontal eye fields simultaneously. If stimulation was started when the subject looked laterally, the initial eye movement was back to the midline, followed by upward deviation. Our finding challenges current view of topological organisation in the human FEF and may have general implications for concepts of topological organisation of the motor cortex, since sustained stimulation also induced upward head movements as a component of the vertical gaze shift. [Published with video sequences]
Late‐onset temporal lobe epilepsy in a patient with juvenile myoclonic epilepsy
Authors: Lie Octavian V , Holmes Mark D
Published: August 2019

We report a patient with longstanding, severe juvenile myoclonic epilepsy who subsequently developed features of temporal lobe epilepsy, which gradually became clinically dominant. Over the years, there was an electrographic evolution from the typical generalised epileptiform patterns, characteristic of juvenile myoclonic epilepsy, to the novel appearance of interictal temporal spikes immediately preceding bisynchronous discharges, and subsequently to temporal intermittent rhythmic delta activity and temporal lobe‐onset seizures. In this rare case of coexistent primary generalised epilepsy and focal epilepsy, the epileptic networks of the two forms of epilepsy appear to overlap.
Antiepileptic drug trials: the view from the clinic*
Authors: Faught Edward
Published: August 2019

A golden age of antiepileptic drug development has yielded over a dozen useful new compounds, but the nature of clinical trials has made translation to practical use in the clinic difficult. Most clinical trials are designed for regulatory purposes and fail to answer critical clinical questions. These questions include: which drug is best as initial therapy, which drugs work as monotherapy, what are good drug combinations, what is the best starting dose and titration schedule, what is a reasonable target dose, what is the shape of the dose‐response curve and does it vary significantly between patients, what is the true incidence of side effects, and what is the long‐term efficacy of the drug? Most of these questions could be answered by changing trial designs, but many changes would entail additional time and money. There are encouraging signs that trials with procedures more directly applicable to the clinic are becoming common. These include direct comparative trials, longer trials with emphasis on seizure freedom, and trials with more flexible dosing schedules. In the past, funding of longer and more naturalistic trials has fallen to government agencies, but commercial funding has been obtained for several recent studies. Better quality control, innovative endpoints, structured searching for side effects, and standardisation of data collection are also promising topics for development.
Is antiepileptogenesis a realistic goal in clinical trials? Concerns and new horizons*
Authors: Schmidt Dieter
Published: August 2019

Any attempt to make antiepileptogenesis a realistic goal in clinical trials should be based on the experience of failures of the past. A wide variety of experimental studies and clinical trials using chronic antiseizure drug therapy during the extended post‐injury period have had minimal success. The disappointing results of these studies may be due to several factors including the possibility that antiseizure drugs, despite the fact they suppress seizure activity, do not interfere in any substantial way with the “epileptogenic” process of focal epilepsies. Although the reasons for the failure are not entirely clear, it may be that the antiseizure drugs may have been tested at the wrong doses, for the wrong duration, or at the wrong time after brain injury. Surprisingly, the anti‐absence drug ethosuximide has also been shown to be antiepileptogenic in several experimental models of absence epilepsy. In addition, clinical trials aimed at preventing focal post‐injury epilepsy have suffered from poor enrolment and other issues related to the comorbidity of severe epilepsies that follow overt brain injury. Testing specific anti‐inflammatory and immunological antiepileptogenic agents to prevent focal epilepsies, as well as prevention trials for genetic epilepsies, possibly with anti‐absence drugs, may be a way to resolve the dilemma. Although more evidence is needed, there is hope on the horizon for antiepileptogenic therapy that works.
Seizure heralding tuberculous meningitis
Authors: Brigo Francesco , Ausserer Harald , Zuccoli Giulio , Tezzon Frediano , Nardone Raffaele
Published: August 2019

Seizures may frequently occur during tuberculous meningitis. We describe a patient with an apparent generalised tonic‐clonic seizure, initially not associated with any magnetic resonance imaging (MRI) abnormality, which was the presenting symptom of tuberculous meningitis. Follow‐up MRI, performed after gadolinium administration, showed signs of meningeal involvement. Seizures may be the presenting symptoms of tuberculous meningitis even in the absence of evident intracerebral lesions on MRI. Therefore, contrast‐enhanced brain MRI should be performed in the diagnostic workup for each first seizure, especially in patients with a clinical suspicion of CNS infectious disease. The term “heraldic seizure”, indicating a subset of acute symptomatic seizures presenting at the onset of a brain/systemic injury or preceding the full clinical manifestation of a cerebral insult, may be helpful to classify these seizures retrospectively, based initially on unknown aetiology.
White matter abnormalities revealed by DTI correlate with interictal grey matter FDG‐PET metabolism in focal childhood epilepsies
Authors: Lippé Sarah , Poupon Cyril , Cachia Arnaud , Archambaud Frédérique , Rodrigo Sébastian , Dorfmuller Georg , Chiron Catherine , Hertz‐Pannier Lucie
Published: August 2019

For patients with focal epilepsy scheduled for surgery, including MRI‐negative cases, 18FDG‐PET was shown to disclose hypometabolism in the seizure onset zone. However, it is not clear whether grey matter hypometabolism is informative of the integrity of the surrounding white matter cerebral tissue. In order to study the relationship between metabolism of the seizure onset zone grey matter and the integrity of the surrounding white matter measured by diffusion tensor imaging (DTI), we performed a monocentric prospective study (from 2006 to 2009) in 15 children with pharmacoresistant focal epilepsy, suitable for interictal 18FDG‐PET, T1‐, T2‐, FLAIR sequence MRI and DTI. Children had either positive or negative MRI (eight with symptomatic and seven with cryptogenic epilepsies, respectively). Seven children subsequently underwent surgery. Standardised uptake values of grey matter PET metabolism were compared with DTI indices (fractional anisotropy [FA], apparent diffusion coefficient [ADC], parallel diffusion coefficient [PDC], and transverse diffusion coefficient [TDC]) in grey matter within the seizure onset zone and adjacent white matter, using regions of interest automatically drawn from individual sulcal and gyral parcellation. Hypometabolism correlated positively with white matter ADC, PDC, and TDC, and negatively with white matter FA.

In the cryptogenic group of children, hypometabolism correlated positively with white matter ADC. Our results demonstrate a relationship between abnormalities of grey matter metabolism in the seizure onset zone and adjacent white matter structural alterations in childhood focal epilepsies, even in cryptogenic epilepsy. This relationship supports the hypothesis that microstructural alterations of the white matter are related to epileptic networks and has potential implications for the evaluation of children with MRI‐negative epilepsy.
Post‐traumatic epilepsy with isolated memory flashbacks
Authors: Limotai Chusak , Mirsattari Seyed M.
Published: August 2019

Some traumatic events can cause both post‐traumatic stress disorder and epileptic seizures. We report the case of a woman who experienced a severe head injury which subsequently led to the development of paroxysmal episodes of isolated memory flashbacks related to the injury. Detailed analysis of her symptoms along with video‐EEG telemetry recordings was helpful to distinguish between these two conditions. [Published with video sequences]
Neonatal suppression‐burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1‐related, early‐onset encephalopathy
Authors: Mastrangelo Massimo , Peron Angela , Spaccini Luigina , Novara Francesca , Scelsa Barbara , Introvini Paola , Raviglione Federico , Faiola Stefano , Zuffardi Orsetta
Published: August 2019

Early‐onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in the first months of life, abnormal background EEG activity, and are associated with severe developmental delay and poor prognosis. Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as “early infantile epileptic encephalopathy”. We report an infant affected by EOEE with a 9q34.11 deletion that encompassed the genes STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without epileptic seizures and an EEG pattern varying from highly discontinuous to suppression‐burst. This was followed by West syndrome at 2 months with atypical hypsarrhythmia and spasms, easily controlled by therapy. Our findings suggest that molecular analysis of STXBP1 should be considered for newborns affected by neonatal encephalopathy associated with a peculiar EEG pattern, even in the absence of neonatal epileptic seizures.
Prolonged ictal monoparesis with parietal Periodic Lateralised Epileptiform Discharges (PLEDs)
Authors: Murahara Takashi , Kinoshita Masako , Usami Kiyohide , Matsui Masashi , Yamashita Kouhei , Takahashi Ryosuke , Ikeda Akio
Published: August 2019

We report a patient with prolonged monoparesis and parietal periodic lateralised epileptiform discharges (PLEDs). The patient was a 73‐year‐old man with chronic myelomonocytic leukaemia who developed persisting monoparesis of the right arm, sensory aphasia, and finger agnosia, initially associated with focal clonic seizures. These neurological deficits remained for seven days without subsequent focal clonic seizures. The EEG showed left‐sided PLEDs, maximal in the left occipito‐parietal area. Ten days later, following phenytoin treatment, these symptoms suddenly improved and parietal PLEDs disappeared. Sustained PLEDs in the left parietal region may have been causally associated with ictal paresis in this patient.
Outcome after epilepsy surgery in children with MRI‐negative non‐idiopathic focal epilepsies
Authors: Bast Thomas
Published: August 2019

MRI is one of the most important diagnostic tools in the presurgical evaluation of patients suffering from pharmaco‐refractory focal epilepsies. Presence of a lesion on MRI influences both diagnostic classification as well as selection for surgery; however, the implications for MRI‐negative cases are far from well defined for such patients. Detection of potentially epileptogenic lesions depends on the techniques applied (high‐field MRI, post‐processing, etc.) and the experience of the neuroradiologist. The proportion of MRI‐negative patients in reported epilepsy surgery cohorts ranges from 16 to 47%. Most MRI‐negative patients undergo invasive long‐term EEG recordings before a final decision regarding resection is possible. Post‐operative seizure freedom rates, with few exceptions, range from 40 to 50%. Selection of surgical candidates and post‐operative outcomes may be improved by recent developments in structural and functional imaging techniques and multimodal approaches. This report gives an overview of outcomes after epilepsy surgery in MR‐negative patients with a focus on children. Issues regarding definitions, the role of established and recently introduced diagnostic tools, and the question of how outcome might be improved in the future are discussed.
Mapping of cingulate motor function by cortical stimulation
Authors: Basha Maysaa M , Vaca Guadalupe Fernández‐Baca , Lüders Hans O
Published: August 2019

An 8‐year‐old boy with intractable left mesiofrontal lobe epilepsy underwent placement of stereotactic intracerebral depth electrodes to better localise the epileptogenic zone. Co‐registration of preoperative MRI and post‐electrode implantation CAT allowed for anatomical localisation of electrode contacts. Electrical stimulation of electrodes over the dorsal and ventral banks of the cingulate cortex on the left produced right foot dorsiflexion and right wrist and elbow flexion, respectively, demonstrating detailed representation of cingulate motor function in humans, somatotopically distributed along the banks of the cingulate sulcus, as seen in the non‐human primate. [Published with video sequences]
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan
Authors: Hitomi Takefumi , Kobayashi Katsuya , Jingami Naoto , Nakagawa Tomokazu , Imamura Hisaji , Matsumoto Riki , Kondo Takayuki , Chin Kazuo , Takahashi Ryosuke , Ikeda Akio
Published: August 2019

We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs and 4 father/child pairs). Moreover, a higher degree of clinical anticipation was associated with maternal transmission than with paternal transmission (p=0.03). Although a causative gene for BAFME still remains unknown, our finding suggests that BAFME and diseases with unstable expanding repeats, including those in non‐coding regions, might share a similar molecular mechanism because such diseases often show clinical anticipation with maternal transmission.
Auditory event‐related potentials (P300) and mesial temporal sclerosis in temporal lobe epilepsy patients
Authors: Artemiadis Artemios K. , Fili Maria , Papadopoulos George , Christidi Fotini , Gatzonis Stergios , Zalonis Ioannis , Nikolaou George , Triantafyllou Nikolaos
Published: August 2019

Aims. To investigate the role of centrally recorded P300 in patients suffering from mesial temporal sclerosis‐temporal lobe epilepsy (MTS‐TLE). Methods. Sixteen patients (3 men and 13 women; median age: 32.5 years old) suffering from TLE with MTS and 43 healthy controls (12 men and 31 women; median age: 35 years old) participated in the study. P300 was elicited using an auditory two‐stimulus oddball paradigm. In order to address the aim of the study, we adopted two statistical approaches; hierarchical linear regression analyses and ROC curves. Results. After adjusting for age, MTS patients had a mean reduction of P300 amplitude by 6.93 μV and a mean increase of P300 latency by 38.78 ms, compared to controls. Age and MTS‐TLE status accounted for 32 and 16% of the variance of latency and amplitude, respectively. Diagnostic analyses to detect MTS‐TLE status revealed a sensitivity and specificity of 88 and 65% for amplitude and 81 and 70% for latency, respectively. No association between duration of disease and P300 characteristics were found. Conclusions. This study, along with other studies, contributes to our understanding and clinical significance of centrally recorded P300s in MTS‐TLE patients. Future studies should focus on the association of these P300s with cognition in such patients.
Understanding the pathophysiology of reflex epilepsy using simultaneous EEG‐fMRI
Authors: Sandhya Manglore , Bharath Rose Dawn , Panda Rajanikant , Chandra S.R. , Kumar Naveen , George Lija , Thamodharan A. , Gupta Arun Kumar , Satishchandra P.
Published: August 2019

Measuring neuro‐haemodynamic correlates in the brain of epilepsy patients using EEG‐fMRI has opened new avenues in clinical neuroscience, as these are two complementary methods for understanding brain function. In this study, we investigated three patients with drug‐resistant reflex epilepsy using EEG‐fMRI. Different types of reflex epilepsy such as eating, startle myoclonus, and hot water epilepsy were included in the study. The analysis of EEG‐fMRI data was based on the visual identiﬁcation of interictal epileptiform discharges on scalp EEG. The convolution of onset time and duration of these epilepsy spikes was estimated, and using these condition‐specific effects in a general linear model approach, we evaluated activation of fMRI. Patients with startle myoclonus epilepsy experienced epilepsy in response to sudden sound or touch, in association with increased delta and theta activity with a spike‐and‐slow‐wave pattern of interictal epileptiform discharges on EEG and fronto‐parietal network activation pattern on SPECT and EEG‐fMRI. Eating epilepsy was triggered by sight or smell of food and fronto‐temporal discharges were noted on video‐EEG (VEEG). Similarly, fronto‐temporo‐parietal involvement was noted on SPECT and EEG‐fMRI. Hot water epilepsy was triggered by contact with hot water either in the bath or by hand immersion, and VEEG showed fronto‐parietal involvement. SPECT and EEG fMRI revealed a similar fronto‐parietal‐occipital involvement. From these results, we conclude that continuous EEG recording can improve the modelling of BOLD changes related to interictal epileptic activity and this can thus be used to understand the neuro‐haemodynamic substrates involved in reflex epilepsy.
Hot water epilepsy
Authors: Vignoli Aglaia , Savini Miriam Nella , La Briola Francesca , Chiesa Valentina , Zambrelli Elena , Peron Angela , Canevini Maria Paola
Published: August 2019

A 9‐year‐old Caucasian boy affected by hot water epilepsy, with positive family history, experienced complex partial seizures during contact with hot water. A video‐EEG recording was taken while hot water was poured onto his chest. Hot water epilepsy is rarely described in European countries, where bathing epilepsy in younger children is more common and often confused with this type of epilepsy. [Published with video sequences]
Nocturnal variant of benign myoclonic epilepsy of infancy: a case series
Authors: Prabhu Aparna M. , Pathak Sheel , Khurana Divya , Legido Agustin , Carvalho Karen , Valencia Ignacio
Published: August 2019

Myoclonus is a brief, rapid, involuntary muscle jerk originating in the central nervous system that can be physiological or a symptom of disease. We report a group of five children with excessive myoclonic jerks, only during sleep, and abnormal EEG during the events. Although only one third of the events had EEG epileptiform correlate, the presence of myoclonus without epileptiform EEG correlate has been described in patients with benign myoclonic epilepsy of infancy. We hypothesize that these findings may represent a variant of benign myoclonic epilepsy of infancy.
Ezogabine treatment of childhood absence epilepsy
Authors: Vossler David G. , Yilmaz Ugur
Published: August 2019

Generalised‐onset absence seizures can be resistant to treatment with currently available antiepileptic drugs. Ezogabine (retigabine), a potassium channel opener, is approved for the treatment of focal‐onset seizures. This is a case report of an adult with childhood absence epilepsy whose daily absence seizures ceased with adjunctive ezogabine. A 59‐year‐old woman, with a history of typical absence seizures since the age of 6 years, had multiple seizures daily despite trials of over 11 antiepileptic drugs. While taking lamotrigine and zonisamide, ezogabine at 50 mg daily was added. The dose was slowly increased and once a total dose of only 200 mg/day was reached, she became seizure‐free for three months. After subsequently discontinuing zonisamide, absence seizures returned. Further increasing the ezogabine to 400 mg/day, in addition to lamotrigine, did not restore seizure freedom, but adding back zonisamide at half dose again reduced their frequency. Ezogabine at low dose, added to lamotrigine and zonisamide, led to sustained absence seizure freedom. The return of seizures after zonisamide discontinuation suggests that the seizure freedom may have been the result of the different mechanisms of action of the antiepileptic drugs.
Paediatric epilepsy surgery in the posterior cortex: a study of 62 cases
Authors: Liava Alexandra , Mai Roberto , Tassi Laura , Cossu Massimo , Sartori Ivana , Nobili Lino , Lo Russo Giorgio , Francione Stefano
Published: August 2019

Past surgical series have emphasized the diagnostic complexity of posterior cortex epilepsy. Available data are sparse, especially in children, and most published series report a high number of surgical failures and post‐operative neurological deficits. In this article, we present a paediatric cohort of 62 children who underwent surgery for drug resistant posterior cortex epilepsy before the age of 16 years with a mean post‐operative follow‐up of 6.94 years (range: 2–16). Mean age at epilepsy onset was 3.2 years and 28 children (45%) had onset before 1 year of age. The mean age at surgery was 7.9 years (range: 1–16). Daily seizures were present in 63% of children. MRI was positive in 58 cases (93.5%) and invasive stereo‐EEG was judged mandatory in 24/62 (39%) of patients.

Surgery was confined to the parietal lobe in 11 children, the occipital lobe in 8, the occipito‐parietal region in four, the occipito‐temporal region in 18, and involved both the temporal and parietal lobes in the remaining 21. Following surgery, 53 subjects (85.5%) remained seizure‐free and among those who underwent a SEEG procedure, 75% achieved seizure freedom. Focal cortical dysplasia was the most frequent histopathological diagnosis (50%), followed by tumoural (24%) and gliotic lesions (14.5%).

An older age at epilepsy onset, the presence of a rather restricted epileptogenic area, and a complete resection of the epileptogenic zone were predictive of a favourable surgical outcome. These results demonstrate that a good surgical outcome is possible in children with drug resistant posterior cortex epilepsy. Accurate analysis of the chronology of ictal semiology and electrophysiological features, viewed in the context of the complete electroclinical pattern, provides a topographical orientation for posterior cortex epilepsy and, together with the presence of a lesion detectable on imaging, may improve the rate of surgical success of posterior cortex epilepsy at paediatric age.
A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures
Authors: Jingami Naoto , Matsumoto Riki , Ito Hirotaka , Ishii Atsushi , Ihara Yukiko , Hirose Shinichi , Ikeda Akio , Takahashi Ryosuke
Published: August 2019

Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A 27‐year‐old man with no history of FS/FS+ experienced intractable generalised convulsive seizures. The patient's father had a history of similar seizures during puberty and the patient's siblings had only FS. No individual in the family had both generalised seizures and FS/FS+, although GEFS+ might be considered to be present in the family. Analysis of SCN1A, a sodium channel gene, revealed a novel mutation (c.3250A>T [S1084C]) in the cytoplasmic loop 2 of SCN1A in both the patient and his father. Most previously reported SCN1A mutations in GEFS+ patients are located in the conserved homologous domains of SCN1A, whereas mutations in the cytoplasmic loops are very rare. SCN1A gene analysis is not commonly performed in subjects with generalised seizures without FS. SCN1A mutation may be a clinically‐useful genetic marker in order to distinguish GEFS+ patients from those with classic idiopathic generalised epilepsy, even if they present an atypical clinical picture.
Bilateral occipital dysplasia, seizure identification, and ablation: a novel surgical technique
Authors: Clarke Dave F. , Tindall Kristi , Lee Mark , Patel Bhairav
Published: August 2019

MRI‐guided thermal ablation is a relatively new technique utilising heat to ablate both tumours and epileptogenic lesions. Its use against epilepsy offers some patients a new and relatively safe way of reducing or aborting seizures. Most cases of MRI‐guided thermal ablation have been performed in patients with isolated lesions. Placement of depth electrodes prior to laser ablation has been rarely performed. We present a case with bilateral independent lesions traversing eloquent cortex, which, after sampling for seizures and successful ablation, retained normal function. The patient is, to date, seizure‐free.
Intraoperative electrocorticography‐guided microsurgical management for patients with onset of supratentorial neoplasms manifesting as epilepsy: a review of 65 cases
Authors: Qiu Bo , Ou Shaowu , Song Teng , Hu Jinqu , You Lingtong , Wang Yong , Wang Yunjie
Published: August 2019

Aim. We reviewed the surgical procedures guided by intraoperative electrocorticography and outcome of 65 patients with onset of supratentorial neoplasms manifesting as epilepsy. Method. Clinical data were obtained for 65 patients with supratentorial neoplasms who received surgery, with the aid of intraoperative electrocorticography to screen epileptogenic foci before and after removal of neoplasms, and depth electrodes when needed. According to electrocorticography findings, appropriate surgical procedures were performed to treat the epileptogenic foci. In the control group, 72 patients received simple lesionectomy. Postoperative seizure outcomes were documented and analysed retrospectively. Results. In the case group, 33 patients received lesionectomy only, while the other 32 patients underwent intraoperative electrocorticography‐guided tailored epilepsy surgery. In total, 57 patients (87.7%) in the case group and 38 patients (52.8%) in the control group were seizure‐free (Engel Class I). Comparing outcomes of patients with temporal lesions between the two groups, 80.0% patients (12/15) in the case group and 20.0% (3/15) in the control group were seizure‐free. Furthermore, comparing the seizure outcomes of patients who finally underwent tailored epilepsy surgery and simple lesionectomy (33 after electrocorticography and 72 without electrocorticography), intraoperative electrocorticography‐guided tailored epilepsy surgery demonstrated superiority over lesionectomy (Engel Class I; 87.5% vs. 63.8%, respectively). Conclusions. Electrocorticography plays an important role in the localisation of epileptogenic foci and evaluation of the effects of microsurgical procedures intraoperatively. Isolated lesionectomy is not usually sufficient for better postoperative seizure outcome. In addition, for patients with temporal tumours, especially in the non‐dominant hemisphere, a more aggressive strategy, such as an anterior temporal lobectomy, is recommended.