Progress in unraveling the genetic etiology of rolandic epilepsy.

Rolandic epilepsy (RE), or benign epilepsy of childhood with centrotemporal spikes (BECT), is the most frequent idiopathic partial epilepsy syndrome of childhood, where the "idiopathic" implies a genetic predisposition. Although RE has long been presumed to have a genetic component, clinical and genetic studies have shown a complex inheritance pattern. Furthermore, the underlying major genetic influence in RE has been challenged by recent reports of twin studies. Meanwhile, many genes or loci have been shown to be associated the RE/atypical RE (ARE) spectrum, with a higher frequency of causative variants in ARE. However, a full understanding of the genetic basis in the more common forms of the RE spectrum remains elusive.

Panayiotopoulos syndrome with convulsive status epilepticus at the onset: a long-term study.

PURPOSE: To better define the convulsive status epilepticus (CSE) as a possible manifestation at the onset of Panayiotopoulos syndrome (PS) and to assess its prognostic value in these children. METHODS: Children with CSE and diagnostic criteria of PS were identified, followed clinically and compared with a group of patients with PS without CSE from 1993 to 2012. RESULTS: We identified 37 patients with CSE at the onset of PS. During the same period we identified 72 children with autonomic symptoms of PS without CSE. The first episode of CSE occurred at a mean age of 6.5 years. Generalized clonic seizures were the most common ictal event and one-third of the patients required admission to Intensive Care Units. Interictal EEGs showed occipital spike activity in 31 (83.7%) subjects. Only 14 (37.8%) patients were treated with valproic acid and for two of them (5.40%) it was necessary to administer other drugs. There were no intractable cases. The overall prognosis was excellent. After the first event, 15 subjects (40.54%) experienced at least another typical PS seizure, but all patients were seizure free at the last follow-up. CONCLUSION: CSE is not uncommon in PS and it may occur at the onset of benign childhood epilepsy, without leading to a poor prognosis.

Preoperative functional mapping for rolandic brain tumor surgery: comparison of navigated transcranial magnetic stimulation to direct cortical stimulation.

BACKGROUND: Transcranial magnetic stimulation (TMS) is the only noninvasive method for presurgical stimulation mapping of cortical function. Recent technical advancements have significantly increased the focality and usability of the method. OBJECTIVE: To compare the accuracy of a 3-dimensional magnetic resonance imaging-navigated TMS system (nTMS) with the gold standard of direct cortical stimulation (DCS). METHODS: The primary motor areas of 20 patients with rolandic tumors were mapped preoperatively with nTMS at 110% of the individual resting motor threshold. Intraoperative DCS was available from 17 patients. The stimulus locations eliciting the largest electromyographic response in the target muscles ("hotspots") were determined for both methods. RESULTS: The nTMS and DCS hotspots were located on the same gyrus in all cases. The mean ± SEM distance between the nTMS and DCS hotspots was 7.83 ± 1.18 mm for the abductor pollicis brevis (APB) muscle (n = 15) and 7.07 ± 0.88 mm for the tibialis anterior muscle (n = 8). When a low number of DCS stimulations was performed, the distance between the nTMS and DCS hotspots increased substantially (r = -0.86 for APB). After the exclusion of the cases with < 15 DCS APB responses, the mean ± SEM distance between the hotspots was only 4.70 ± 1.09 mm for APB (n = 8). CONCLUSION: Peritumoral mapping of the motor cortex by nTMS agreed well with the gold standard of DCS. Thus, nTMS is a reliable tool for preoperative mapping of motor function.

Epilepsy surgery in children with seizures arising from the rolandic cortex.

PURPOSE: Medically intractable seizures arising from the sensorimotor (rolandic) cortex present a formidable challenge for epileptologists and epilepsy surgeons. The objective of this study was to evaluate the safety and efficacy of surgical treatment for seizures in this region. METHODS: We retrospectively reviewed the medical records of 24 children and adolescents who underwent surgical management of refractory rolandic epilepsy at our institution. RESULTS: Patient age at the time of surgery ranged between 1.9 and 19.2 years, and median postoperative follow-up was 2.3 years. Three patients had clear lesions on preoperative magnetic resonance imaging (MRI) that correlated with noninvasive electroencephalography (EEG) and underwent single-stage lesionectomies. Of the 21 patients who underwent invasive monitoring, 19 underwent therapeutic procedures, including lesionectomy, topectomy, and multiple subpial transections. Engel class I and II outcomes were seen in five of six patients (84.0%) after lesionectomy and in seven of nine patients (77.0%) and four of six patients (66.7%) after sensorimotor corticectomy or multiple subpial transections (MSTs), respectively. At last follow-up, neurologic deficits were observed following 50.0% (n = 3 of 6) of lesionectomies and 67.0% (n = 7 of 9) of topectomies; no neurologic deficits were seen in patients undergoing motor cortex MSTs. No correlation existed between seizure outcome and duration of epilepsy, age at diagnosis, age at surgery, histopathology, or the presence or absence of a discrete lesion. DISCUSSION: Surgery for appropriately selected children with intractable seizures arising from rolandic cortex was effective and associated with minimal neurologic morbidity in many cases. Engel I-II outcome was achieved in 77% of patients overall, and neurologic deficits were often mild and improved over time. Lesionectomy resulted in the best seizure control, followed by topectomy, and then MSTs.

[Diagnosis of sylvian and perisylvian epilepsies. Excitation symptomes of the insula reilii]. / Diagnostik sylvischer und perisylvischer Epilepsien. Exzitationssymptome der versunkenen Insel.

The insula is a hidden part in the cerebral cortex about which relatively little neurological research has been done. The present manuscript describes architectural and evolutionary aspects of the insula reilii as well as its function, towards a better understanding of seizure semiology. As the literature of such casuistry is poor, some own cases are presented. Seizure semiology, imaging, magnetoencephalographic reports, resective epilepsy surgery, radiosurgical treatments, and thermolesions are described. Magnetic source imaging as noninvasive treatment can deliver important information for the involvement of sylvian and perisylvian regions in focal pharmacoresistant epilepsies.

Wilson's disease and benign epilepsy of childhood with centrotemporal (rolandic) spikes.

Cases with a clinical and electroencephalographic phenotype of benign epilepsy of childhood with centrotemporal spikes (BECTS) in association with a proven organic brain lesion have rarely been reported. To our knowledge, we herein describe for the first time a patient with Wilson's disease who subsequently manifested BECTS. Our case bolsters the argument that in at least some cases, BECTS is associated with organic brain disease.

Epilepsia rolándica. Análisis de las características clínicas, electrofisiológicas, tratamiento y pronóstico en 87 pacientes / Rolandic epilepsy. An analysis of the clinical and electrophysiological characteristics, treatment and prognosis in 87 patients

Introducción. La epilepsia rolándica es el síndrome epiléptico más común en la infancia, que presenta generalmente un buen pronóstico y desaparición de las crisis en la adolescencia. Objetivos. Describir en términos clínicos, electrofisiológicos e imaginológicos una población de niños con diagnóstico de epilepsia rolándica. Comparar los resultados obtenidos con lo descrito en la literatura. Pacientes y métodos. Estudio retrospectivo y descriptivo de los niños seguidos en la Consulta de Neuropediatría del HGSA desde 1989, con el diagnóstico de epilepsia rolándica. Se excluyeron los niños que tenían menos de 2 años de edad en la primera crisis o con exámenes neurológicos/imaginológicos anormales. Se definieron dos grupos (típico y atípico), se caracterizaron diversas variables y se procedió a su análisis estadístico. Resultados. Se incluyeron 87 niños (51 de sexo masculino) con una edad media de 13,6 años. La población se dividió en dos grupos: A (casos típicos; n = 69) y B (casos atípicos; n = 18). La edad media del inicio de las crisis fue de 6,2 y 5,9 años, respectivamente para los grupos A y B. El tipo de crisis predominante fue parcial simple para el grupo A y parcial compleja para el grupo B; resultaron mayoritariamente esporádicas y nocturnas en ambos grupos. Se medicó a 51 (73,9%) niños del grupo A, con buena respuesta en el 78,4%, y a 13 (72,2%) del grupo B, con buena respuesta en el 76,9%. Conclusiones. La epilepsia rolándica presenta un amplio espectro clínico, sigue su curso generalmente con un desarrollo psicomotor normal, pero puede coexistir con problemas de aprendizaje. No se hallaron diferencias significativas entre ambas formas de presentación típica y atípica, en lo que hace referencia a la evolución y respuesta al tratamiento (AU)

Introduction. Rolandic epilepsy is the most common epileptic syndrome in infancy. It usually has a favourable prognosis and seizures disappear during the teenage years. Aims. The aim of this study was to describe a sample of children diagnosed with rolandic epilepsy in clinical, electrophysiological and imaging terms. We also intend to compare the results obtained with those described in the literature. Patients and methods. We conducted a retrospective, descriptive study of the children diagnosed with rolandic epilepsy who had been submitted to a follow-up at the Neuropaediatrics Unit at the HGSA since 1989. Children who were less than 2 years old when they suffered their first seizures or who had abnormal neurological/imaging examinations were excluded. Two groups were defined (typical and atypical), several variables were characterised and these were then analysed statistically. Results. A total of 87 children (51 males) were included in this study, their mean age being 13.6 years. The population was divided into two groups: A (typical cases; n = 69) and B (atypical cases; n = 18). The mean age at the onset of seizures was 6.2 and 6 years for groups A and B, respectively. The predominant type of seizures was simple partial for group A and complex partial for group B; they were mainly sporadic and nocturnal in both groups. Medication was administered to 51 (73.9%) of the children in group A, with a good response in 78.4% of them; 13 members of group B (72.2%) received medication, with a positive response in 76.9% of them. Conclusions. Rolandic epilepsy has a broad clinical spectrum and usually courses with normal psychomotor development, but may coexist with learning disabilities. In this study, no significant differences were found between the typical and atypical forms of presentation, as far as their progress and response to treatment are concerned (AU)

Future aspects of epilepsy research.

This contribution in honour of Prof. Gerhard Pendl first reviews some recent studies on resected tissue, migrational disorders, and Rasmussen's Syndrome. These areas of basic research profit from recent advances of molecular biology and genetics. On the clinical side, some studies dealing with proton magnetic resonance spectroscopy are reviewed. In order to highlight the progress in clinical epilepsy research using modern methods of structural and functional imaging, functional outcome prediction is also reviewed. This kind of advanced clinical research is dealt with by discussing risk factor assessment associated with postsurgical decrements in memory. With regard to motor functions, we compare the yield of functional MR and intraoperative cortical stimulation in patients with lesions in or close to the Rolandic cortex. Progress in the field of advanced EEG analysis is reviewed in the context of "seizure prediction" and cognitive event-related potentials. Finally some of the new epilepsy treatment options, such as Gamma Knife treatment, where Prof. Pendl's group made pioneering contributions, are dealt with.

[Characteristics of epileptic seizures associated with cerebral arteriovenous malformations]. / Caractéristiques des crises d'épilepsie associées aux malformations artério-veineuses cérébrales.

PURPOSES: The purpose of this study is to analyze the characteristics of epileptic seizures associated with cerebral arteriovenous malformations treated by radiosurgery. PATIENTS AND METHODS: Seven hundred and two patients are studied (406 men, 296 women) with a mean age of 33 when radiosurgery was performed. 210 patients had epileptic seizures; those seizures either uniquely revealed the arteriovenous malformation or were associated with other clinical signs. Seizures occurring after an hemorrhage were excluded from the study. We studied the age category upon seizures occurrence, the malformation localization, type of seizure (partial, generalized, or partial secondary generalized), the history related to the epileptic seizures, the clinical topographical correlation, the number of seizures, their duration prior to the radiosurgery, antiepileptic treatment provided, electroence-phalographic characteristics, angiographic characteristics, prior endovascular or surgical treatment, and factors associated with severe seizure. RESULTS: Epileptic seizures revealed the arteriovenous malformations in 30% of the cases; they predominated between 10 and 40 years (80.5%) with a peak between 20 and 30 years. The malformation localization most frequently associated with seizures were temporal and rolandic for partial seizures, whereas frontal or sylvian localization were predominantly associated with generalized seizures. The type of seizure was, in all cases, related to the malformation localization because of the initial signs seizure. 47.6% of the patients showed a limited number of seizures (between 2 and 20), 27.6% showed only a single seizure, and 24.7% suffered from severe epilepsy. Generalized seizures are unique in the majority of cases (61.8%) whereas partial seizures were severe in 47.6% of the cases. The majority of patients are under a single-drug therapy (79%). The EEG patterns showed a small increase of slow and sharp localized waves in patients presenting seizures compared with the global population (27% and 15% respectively). Severe seizures predominated between 10 and 19 years of age; seizures were exclusively partial in 59.6% of the cases and secondary generalized in 40.4%, their frequencies were between 1 to 4 per month in the majority of cases (59.1%), the delay was often more than 10 years (57.7%), status epilepticus was rare (5.8%), temporal and rolandic localization were predominant, social and professional insertion of the patient was preserved in 87.5% of the cases, and seizures did not provoke any death. The angiographic characteristics associated with seizures were: superficial localization, volume, superficial venous drainage, recruitment and venous divergence. CONCLUSION: Anatomic and topographic characteristics of cerebral arterio-venous malformations may provide information on the features of seizures associated with them.

Centro-temporal spikes in non-epileptic children: a long-term follow up.

OBJECTIVE: This study was undertaken in order to determine the natural evolution of centro-temporal spikes (CTS) in a healthy paediatric population. METHODOLOGY: Forty children and adolescents (mean age +/- SD: 9.9 +/- 4.1 years) with non-epileptic disturbances (tics, headache, pavor nocturnus, vertigo, etc), who showed CTS during routine EEG recordings were studied. No patient suffered from seizures. A clinical and electroencephalographic follow-up of at least 5.5 years was carried out in all subjects. RESULTS: At the follow-up examination, 33 of the 40 cases (82.5%) had no CTS or other epileptic discharges in awake and sleep EEGs, while six subjects continued to show CTS discharges in sleep EEG. Among those subjects who showed persistence of CTS in sleep EEG, rolandic epilepsy developed in two cases, while all other subjects continued to be seizure free. CONCLUSIONS: This study demonstrates that CTS can be present in non-epileptic children and adolescents; in the majority of subjects this EEG abnormality disappears spontaneously and only a small percentage of subjects who have persistence of this pattern develops rolandic epilepsy.