Cognitive and behavioral profiles of pediatric surgical candidates with frontal and temporal lobe epilepsy.

BACKGROUND: We aimed to prospectively analyze memory and executive and social cognitive functioning in patients with drug-resistant frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE) with focal lesions and isolate the impact of intellectual ability on specific deficits. METHODS: A neuropsychological evaluation was performed in 23 children with FLE, 22 children with TLE, and 36 healthy pediatric controls (HCs). Patients in the epilepsy groups had a range of lesions, including low-grade epilepsy-associated tumors (LEAT), focal cortical dysplasia (FCD) type II, and mesial temporal sclerosis (MS). RESULTS: There were no significant differences between children with FLE and TLE regarding memory, executive, or social cognitive functioning. General Ability Index (GAI) was a predictor of memory, executive function, and social cognition scores and was influenced by age at onset, duration of epilepsy, and number of antiepileptic drugs (AEDs) prescribed at the time of assessment. Working Memory Index scores of patients with TLE, which measure verbal mnesic processing, were significantly lower than those of HCs and patients with TLE. The greatest differences in both clinical groups compared to HCs were recorded in cognitive executive functions, and patients with FLE had lower scores in this domain. Regarding behavioral executive functions, patients with TLE presented impaired emotional control and impulse inhibition and patients with FLE exhibited decreased flexibility. CONCLUSION: Consistent with previous research, our findings provide further detailed evidence of small differences in cognitive performance among children with FLE and TLE. These differences emerge on analysis of the factors with which deficits are associated.

Seizure and developmental outcomes after hemispherectomy in children and adolescents with intractable epilepsy.

PURPOSE: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains. METHODS: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions. RESULTS: At latest follow-up, all patients with RE and 66.7 % of those with vascular lesions are in Engel's class I; in the latter group, pre-surgical independent contralateral EEG discharges statistically correlated with a worse seizure outcome. Patients with MCD showed the worst seizure outcome. Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD and vascular lesions already showed severe global developmental delay before surgery, which persists afterwards. A linear correlation was found between earlier age at surgery and better outcome in personal-social, gross motor, and adaptive domains, in the vascular lesions group. The case with highest cognitive improvement had continuous spike and wave during sleep on pre-surgical EEG. CONCLUSIONS: Pathologic substrate was the main factor related with seizure outcome. In children with MCD and vascular lesions, although developmental progression is apparent, significant post-surgical improvements are restricted by the severity of pre-surgical neuropsychological disturbances and a slow maturation. Early surgery assessment is recommended to enhance the possibilities for a better quality of life in terms of seizure control, as well as better autonomy and socialization.

Sleeve gastrectomy as a surgical technique in bariatric surgery: Results of safety and effectiveness.

INTRODUCTION: The aim of this study is to evaluate the safety and effectiveness results of sleeve gastrectomy as a bariatric technique. METHODS: Observational follow-up study of a cohort of patients who underwent sleeve gastrectomy in our center between 2008 and 2017. A total of 223 patients were included: 166 as a primary technique (group 1) and 57 as a hypothetical first stage (group 2). RESULTS: In group 1, the postoperative morbidity is 12.6%, with a fistula rate of 4.2%; 5.4% required reoperation and mortality was 0.6%. In group 2, postoperative morbidity is 14%, with a fistula rate of 5.3%; 10.5% required reoperation and mortality was 5.3%. In group 1, 79.6% and 62.5% of patients at 2 and 5 years respectively managed to achieve a % EBMIL > 50%. In group 2, the second stage was completed only in 8 patients (14.0%). Of the patients who did not complete the second stage, 32.2% and 5.9% achieved a % EEBMIL > 100% at 2 and 5 years. Analyzing those who completed the second stage, the mean EEBMIL% was 90.5% and 93.4% at 2 and 5 years. CONCLUSIONS: Sleeve gastrectomy is a safe technique in patients with BMI < 45 and effective in terms of weight loss in the short-medium term. In patients with BMI > 55, a preoperative optimization aimed at reducing morbidity and mortality is necessary, as well as adequately planning the second stage, without which it is clearly insufficient.

Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients.

There is growing evidence for inflammation as a cause and/or consequence of seizures in epilepsy as certain inflammatory biomarkers are elevated. Interleukin (IL)-6, with pro-inflammatory and epileptogenic effects, can perpetuate seizures. Clinical and experimental data support its involvement in acute refractory situations, with some cases responding to treatment with tocilizumab, a humanized monoclonal antibody against the IL-6 receptor. We describe 2 pediatric cases of refractory epilepsy with an abrupt debut responding to tocilizumab. Advances in the knowledge of inflammatory biomarkers involved in epilepsy and the targeted treatment could have important benefits, especially in cases that are refractory to usual treatments.

Sleeve gastrectomy as a surgical technique in bariatric surgery: Results of safety and effectiveness. / Gastrectomía vertical como técnica quirúrgica en cirugía bariátrica: análisis de resultados de seguridad y efectividad.

INTRODUCTION: The aim of this study is to evaluate the safety and effectiveness results of sleeve gastrectomy as a bariatric technique. METHODS: Observational follow-up study of a cohort of patients who underwent sleeve gastrectomy in our center between 2008 and 2017. A total of 223 patients were included: 166 as a primary technique (group 1) and 57 as a hypothetical first stage (group 2). RESULTS: In group 1, the postoperative morbidity is 12.6%, with a fistula rate of 4.2%; 5.4% required reoperation and mortality was 0.6%. In group 2, postoperative morbidity is 14%, with a fistula rate of 5.3%; 10.5% required reoperation and mortality was 5.3%. In group 1, 79.6% and 62.5% of patients at 2 and 5 years respectively managed to achieve a % EBMIL>50%. In group 2, the second stage was completed only in 8 patients (14.0%). Of the patients who did not complete the second stage, 32.2% and 5.9% achieved a % EEBMIL>100% at 2 and 5 years. Analyzing those who completed the second stage, the mean EEBMIL% was 90.5% and 93.4% at 2 and 5 years. CONCLUSIONS: Sleeve gastrectomy is a safe technique in patients with BMI<45 and effective in terms of weight loss in the short-medium term. In patients with BMI>55, a preoperative optimization aimed at reducing morbidity and mortality is necessary, as well as adequately planning the second stage, without which it is clearly insufficient.

Genetic variability of the Stearoyl-CoA desaturase gene in sheep.

Stearoyl-CoA desaturase (SCD) plays a key role in lipid metabolism in humans and livestock. In ruminants, changes in the coding and/or regulatory sequences of the SCD gene could generate alterations in the enzymatic activity, producing variations in the fatty acid content in milk and meat. In this study, we investigated the genetic variability in 3989 bp of the ovine SCD gene. A total of 85 animals belonging to eight sheep breeds with different selection goals (dairy vs. meat) and fat metabolisms (fat-tailed vs. thin-tailed) were analysed. No polymorphisms were found within the coding region of the SCD gene (1080 bp). Analysis of the non-coding region (2909 bp) allowed the identification of four SNPs located in the promoter region (SCD01), intron 2 (SCD02 and SCD03) and intron 3 (SCD04). The most polymorphic SNP in the studied breeds was SCD01, which displayed intermediate frequencies in the highly specialised breeds, whereas it was less variable in the meat populations. Further efforts are needed to evaluate the potential use of the identified SNPs as markers for fat content and fatty acid composition of sheep products, and to assess the possible use of sheep as an animal model for human diseases related to lipid metabolism.

Minimally invasive and robotic surgery in the surgical treatment of esophagogastric junction cancer. / Cirugía mínimamente invasiva y robótica en el tratamiento quirúrgico de las neoplasias de la unión esofagogástrica.

Minimally invasive surgery provides for the treatment of esophagogastric junction tumors under safe conditions, reducing respiratory and abdominal wall complications. Recovery is improved, while maintaining the oncological principles of surgery to obtain an optimal long-term outcome. It is important to have a sufficient volume of activity to progress along the learning curve with close expert supervision in order to guarantee R0 resection and adequate lymphadenectomy. Minimal invasiveness ought not become an objective in itself. Should total gastrectomy be performed, the risk of a positive proximal margin makes intraoperative biopsy compulsory, without ruling out a primary open approach. Meanwhile, minimally invasive esophagectomy has been gaining ground. Its main difficulty, the intrathoracic anastomosis, can be safely carried out either with a mechanical side-to-side suture or a robot-assisted manual suture, thanks to the 3-D vision and versatility of the instruments.

Gastrectomía vertical como técnica quirúrgica en cirugía bariátrica: análisis de resultados de seguridad y efectividad / Sleeve gastrectomy as a surgical technique in bariatric surgery: Results of safety and effectiveness

Introducción: El objetivo de este trabajo es evaluar los resultados de seguridad y efectividad de la gastrectomía vertical como técnica bariátrica. Métodos: Estudio observacional de seguimiento de una cohorte de pacientes intervenidos de gastrectomía vertical en nuestro centro entre los años 2008 y 2017. Se incluyen en total de 223 pacientes: 166 como técnica primaria (grupo 1) y 57 como teórico primer tiempo (grupo 2). Resultados: En el grupo 1, la morbilidad postoperatoria es del 12,6%, siendo la tasa de fístula del 4,2%; un 5,4% precisó reintervención quirúrgica, y la mortalidad es del 0,6%. En el grupo 2, la morbilidad postoperatoria es del 14%, con una tasa de fístula del 5,3%; un 10,5% precisó reintervención quirúrgica y la mortalidad es del 5,3%. En el grupo 1, un 79,6 y un 62,5% de los pacientes a los 2 y 5 años, respectivamente, consiguen alcanzar un %EIMCP>50%. En el grupo 2, el segundo tiempo se completó únicamente en 8 pacientes (14,0%). De los pacientes que no completaron el segundo tiempo, el 32,2 y el 5,9% alcanzan un %EIMCPE>100% a 2 y 5 años. Analizando los pacientes que completaron el segundo tiempo, el %EIMCPE medio fue de 90,5 y 93,4% a los 2 y 5 años del mismo. Conclusiones: La gastrectomía vertical es una técnica segura en pacientes con IMC<45 y efectiva en cuanto a la pérdida de peso a corto-medio plazo. En pacientes con IMC>55 es necesario una optimización preoperatoria encaminada a reducir la morbimortalidad, así como planificar adecuadamente el segundo tiempo, sin el cual resulta claramente insuficiente.Palabras clave:ObesidadCirugía bariátricaGastrectomía verticalResultados de seguridad y efectividadEstándares de calidad (AU)

Introduction: The aim of this study is to evaluate the safety and effectiveness results of sleeve gastrectomy as a bariatric technique. Methods: Observational follow-up study of a cohort of patients who underwent sleeve gastrectomy in our center between 2008 and 2017. A total of 223 patients were included: 166 as a primary technique (group 1) and 57 as a hypothetical first stage (group 2). Results: In group 1, the postoperative morbidity is 12.6%, with a fistula rate of 4.2%; 5.4% required reoperation and mortality was 0.6%. In group 2, postoperative morbidity is 14%, with a fistula rate of 5.3%; 10.5% required reoperation and mortality was 5.3%. In group 1, 79.6% and 62.5% of patients at 2 and 5 years respectively managed to achieve a % EBMIL>50%. In group 2, the second stage was completed only in 8 patients (14.0%). Of the patients who did not complete the second stage, 32.2% and 5.9% achieved a % EEBMIL>100% at 2 and 5 years. Analyzing those who completed the second stage, the mean EEBMIL% was 90.5% and 93.4% at 2 and 5 years. Conclusions: Sleeve gastrectomy is a safe technique in patients with BMI<45 and effective in terms of weight loss in the short-medium term. In patients with BMI>55, a preoperative optimization aimed at reducing morbidity and mortality is necessary, as well as adequately planning the second stage, without which it is clearly insufficient (AU)

Late-onset periodic bradycardia during vagus nerve stimulation in a pediatric patient. A new case and review of the literature.

BACKGROUND: Epilepsy is a common disease in the world. Around 10-40% of patients who suffer epilepsy will have intractable seizures. When resective epilepsy surgery is not possible, vagus nerve stimulation (VNS) can be an option. The most common side effects associated with VSN therapy are hoarseness, throat pain and coughing. Cardiac arrhythmia has been reported during lead tests performed during implantation of the device, but few cases during regular treatment. We report a new child where vagally induced bradyarrhythmia, perfectly correlated with the stimulation periods. CLINICAL REPORT: 13-year-old girl with refractory myoclonic-astatic epilepsy since the age of two. When she was five years old, a VNS was implanted with complete resolution of her seizures. But when she was 13, she began with sudden falls with loss of consciousness lasting less than 10 s, which were similar to her previous epileptic drop-attacks. Continuous ECG recording was normal but electrocardiography showed a bradycardia of 45 bpm with a syncope-like episode. It was necessary to turn off the VNS. CONCLUSIONS: To our knowledge, there are just three pediatrics and four adults patients described in the literature with this severe and life-threatening side effect. Cardiac complications of VNS therapy are very infrequent but should alert clinicians to its possibility. A cardiac evaluation is mandatory before VNS implantation and periodically thereafter (probably between one or three years).

[Reversible neuropsychological deterioration associated to zonisamide in a paediatric patient with tuberous sclerosis]. / Deterioro neuropsicologico reversible asociado a zonisamida en un paciente pediatrico con esclerosis tuberosa.

AIM: To document reversible cognitive deterioration associated to high doses of zonisamide, using the Reliable Change Index to control practice effects derived from repetitive neuropsychological assessments. CASE REPORT: A 11 year-old boy with tuberous sclerosis complex and left frontal refractory epilepsy, evaluated within a paediatric epilepsy surgery program. The epileptogenic zone was found to be related with a tuber situated on the left inferior frontal gyrus. The effects of high doses of zonisamide simulate a disturbance of eloquent cortex within the epileptogenic zone and the impact of uncontrolled seizures on cognitive functioning over the language-dominant hemisphere. Drug withdrawal significantly improved total intelligence index, verbal comprehension intellectual index and specific language-sustained cognitive abilities, beyond practice effects. CONCLUSIONS: The differentiation between cognitive effects of drugs and functional deficits resulting from eloquent cortex involvement within the epileptogenic zone can be of crucial importance in the decision-making process for epilepsy surgery.

TITLE: Deterioro neuropsicologico reversible asociado a zonisamida en un paciente pediatrico con esclerosis tuberosa.Objetivo. Documentar el deterioro cognitivo reversible asociado a altas dosis de zonisamida, utilizando indices de cambio fiable para controlar los efectos de practica derivados de evaluaciones neuropsicologicas repetidas. Caso clinico. Niño de 11 años con complejo esclerosis tuberosa y epilepsia refractaria del lobulo frontal izquierdo, evaluado en el contexto de un programa de cirugia de la epilepsia pediatrica. La zona epileptogena se relaciono con un tuber epileptogeno localizado en el giro frontal inferior del hemisferio izquierdo. Los efectos de altas dosis de zonisamida mimetizaron una afectacion de la corteza elocuente en la zona epileptogena y un impacto de las crisis no controladas en el funcionamiento cognitivo asociado al hemisferio dominante para el lenguaje. La retirada del farmaco mejoro significativamente, mas alla de los efectos de practica, el cociente intelectual total, el indice intelectual de comprension verbal y habilidades cognitivas especificas sustentadas en el lenguaje. Conclusiones. La diferenciacion entre los efectos cognitivos de los farmacos y la existencia de un deficit funcional por afectacion de la corteza elocuente en el area epileptogena puede ser crucial para la toma de decisiones en cirugia de la epilepsia.

Inducción de crisis de ausencia atípica durante el tratamiento con perampanel / Induced atypical absence seizures during treatment with perampanel

No disponible

Encefalitis por anticuerpos contra el receptor de NMDA con afectación hemisférica unilateral / Anti-NMDA receptor encephalitis with unilateral hemispheric affectation

No disponible

Cirugía mínimamente invasiva y robótica en el tratamiento quirúrgico de las neoplasias de la unión esofagogástrica / Minimally invasive and robotic surgery in the surgical treatment of esophagogastric junction cancer

La cirugía mínimamente invasiva permite el tratamiento de los tumores de la unión esofagogástrica en condiciones de seguridad, reduciendo las complicaciones respiratorias y parietales y mejorando la recuperación postoperatoria, manteniendo además los principios de la cirugía oncológica que permitan obtener unos resultados óptimos de efectividad a largo plazo. Para ello, es necesario un volumen de actividad suficiente y avanzar en la curva de aprendizaje de forma tutelada, para poder garantizar una resección R0 y una linfadenectomía adecuada. La mínima invasión no puede ser un objetivo en sí misma. En caso de gastrectomía total, el riesgo de afectación del margen proximal obliga a verificarlo mediante biopsia intraoperatoria, sin descartar la cirugía abierta de entrada. Por su parte, la esofagectomía mínimamente invasiva se ha ido imponiendo progresivamente. Su principal dificultad, la anastomosis intratorácica, puede realizarse mediante una sutura laterolateral mecánica o manualmente asistida por robot, gracias a la visión tridimensional y a la versatilidad del instrumental

Minimally invasive surgery provides for the treatment of esophagogastric junction tumors under safe conditions, reducing respiratory and abdominal wall complications. Recovery is improved, while maintaining the oncological principles of surgery to obtain an optimal long-term outcome. It is important to have a sufficient volume of activity to progress along the learning curve with close expert supervision in order to guarantee R0 resection and adequate lymphadenectomy. Minimal invasiveness ought not become an objective in itself. Should total gastrectomy be performed, the risk of a positive proximal margin makes intraoperative biopsy compulsory, without ruling out a primary open approach. Meanwhile, minimally invasive esophagectomy has been gaining ground. Its main difficulty, the intrathoracic anastomosis, can be safely carried out either with a mechanical side-to-side suture or a robot-assisted manual suture, thanks to the 3-D vision and versatility of the instruments

Diez años de experiencia con el estimulador del nervio vago en una población pediátrica / Ten years' experience with vagus nerve stimulation in a paediatric population

Introducción. La epilepsia afecta a 50 millones de personas. Hasta un 30% no se controla con fármacos antiepilépticos. El estimulador del nervio vago (ENV) constituye una alternativa terapéutica que hay que valorar. Objetivo. Determinar el efecto del ENV en una cohorte pediátrica con epilepsia refractaria. Pacientes y métodos. Estudio retrospectivo de niños con ENV implantado entre 2008 y 2017 en un hospital terciario. Se han analizado datos epidemiológicos, etiológicos, clínicos, electrofisiológicos y parámetros del ENV. Resultados. Se incluyó a 35 pacientes, con una mediana de edad de implantación de 12,84 años (rango: 3,1-18,7 años) y una mediana de evolución entre el inicio de la epilepsia y la implantación de 7,2 años (rango: 1,3-17,7 años). La etiología fue estructural en el 62,9% de los casos. Cuadros epilépticos más frecuentes: síndrome de Lennox-Gastaut y epilepsia focal, con predominio de las crisis tónicas (57,1%). El videoelectroencefalograma mostró anomalías multifocales (54%) y un patrón de encefalopatía epiléptica (34,3%). El 94% asociaba discapacidad intelectual. La media de fármacos antiepilépticos previos fue de 9,6 ± 3 (rango: 4-16). El 43% fueron respondedores (>= 50% reducción de crisis), con una media de reducción del 67,3%, mejor cuanto mayor era la edad de inicio de la epilepsia. Tres pacientes quedaron libres de crisis (8,5%). La reducción de crisis fue del 33% a los 6 meses y del 47,4% a los 24 meses. Mejoría cognitiva (57%) y conductual (53%). El 28% tuvo efectos secundarios, generalmente leves. Conclusiones. El ENV es una opción válida en la epilepsia refractaria con mejoría no sólo de las crisis, sino también cognitiva y conductual, con la importancia que ello tiene para la población pediátrica

Introduction. Fifty million people are aff ected by epilepsy. Up to 30% are not controlled with the aid of antiepileptic drugs. The vagus nerve stimulator (VNS) is a therapeutic alternative that must be taken into account. Aim. To determine the eff ect of the VNS in a cohort of paediatric patients with refractory epilepsy. Patients and methods. A retrospective study of children with a VNS implanted between 2008 and 2017 in a tertiary hospital. Epidemiological, aetiological, clinical and electrophysiological data, along with VNS parameters were analysed. Results. The study included 35 patients, with a mean age when the VNS was implanted of 12.84 years (range: 3.1-18.7 years) and a mean time between onset of epilepsy and implantation of 7.2 years (range: 1.3-17.7 years). The causation was structural in 62.9% of cases. The most frequent epileptic conditions were: Lennox-Gastaut syndrome and focal epilepsy, with a redominance of tonic seizures (57.1%). The video electroencephalogram showed multifocal anomalies (54%) and a pattern of epileptic encephalopathies (34.3%). Intellectual disability was associated in 94% of the cases. The mean of previous antiepileptic drugs was 9.6 ± 3 (range: 4-16). 43% responded to treatment (≥ 50% reduction in number of seizures), with a mean reduction of 67.3%, which improved with higher ages of onset of epilepsy. Three patients were seizure-free (8.5%). The number of seizures decreased by 33% at six months and by 47.4% at 24 months. There was also a notable degree of cognitive (57%) and behavioural improvement (53%). In 28% of cases there were some side eff ects, but in general they were mild. Conclusions. The VNS is a valid option in refractory epilepsy, with improvements not only in terms of seizures but also regarding cognitive-behavioural aspects, this being very important for the paediatric population

[Video electroencephalographic diagnosis of epileptic and non-epileptic paroxysmal episodes in infants and children at the pre-school age]. / Diagnostico videoelectroencefalografico de los episodios paroxisticos epilepticos y no epilepticos en el lactante y el nino en edad preescolar.

The main usefulness of video electroencephalographic (video-EEG) monitoring lies in the fact that it allows proper classification of the type of epileptic seizure and epileptic syndrome, identification of minor seizures, location of the epileptogenic zone and differentiation between epileptic seizures and non-epileptic paroxysmal manifestations (NEPM). In infants and pre-school age children, the clinical signs with which epileptic seizures are expressed differ to those of older children, seizures with bilateral motor signs such as epileptic spasms, tonic and myoclonic seizures predominate, and seizures with interruption of activity or hypomotor seizures, and no prominent automatisms are observed. In children with focal epilepsies, focal and generalised signs are often superposed, both clinically and in the EEG. NEPM may be benign transitory disorders or they can be episodic symptoms of different neurological or psychopathological disorders. NEPM are often observed in children with mental retardation, neurological compromise or autism spectrum disorders, who present epileptic seizures and epileptiform abnormalities in the baseline EEG. It then becomes necessary to determine which episodes correspond to epileptic seizures and which do not. The NEPM that are most frequently registered in the video-EEG in infants and pre-school age children are unexpected sudden motor contractions ('spasms'), introspective tendencies, motor stereotypic movements and paroxysmal sleep disorders.

[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. / Características clínicas, electroencefalográficas y genómicas de los pacientes con epilepsia con crisis febriles plus.

INTRODUCTION: The most frequent mutations in the spectrum of epilepsy with febrile seizures plus are those in the voltage-dependent sodium channels or in the gamma-aminobutyric acid receptors. AIM: To describe the clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus and compare them with those found in the literature. PATIENTS AND METHODS: We analysed 26 patients who had been diagnosed with this condition and had had a targeted genetic study with the aim of collecting variables related to epidemiological data, characteristics of the epilepsy, development, complementary tests, antiepileptic treatments and genetic study. RESULTS: Nine patients presented generalised epilepsy with febrile seizures plus; six had Dravet's syndrome; six had borderline Dravet's syndrome; two had Doose's syndrome; and three of them had cryptogenic partial epilepsy. Genetic disorders were observed in 62% of the cases. The mean age of onset of epilepsy was 13.5 months and the age was lower (with statistically significant differences) in patients with positive genetic testing. Epileptic status was suffered by 58% of cases either at onset or in the development of the epilepsy. A total of 85% of cases were taking valproic acid and 58% displayed cognitive impairment. Complementary tests were performed in all the patients. CONCLUSIONS: Epilepsies with febrile seizures plus make up a genetically heterogeneous group. Missense mutations were the most common in our study. Although it is difficult to establish phenotype-genotype correlations, patients with deletions showed typical or borderline Dravet's syndrome, whereas mutations in the gamma-aminobutyric acid receptor had less severe epilepsy.

Epilepsy surgery in children with developmental tumours.

We report our experience regarding evaluation, surgical treatment and outcomes in a population of 21 children with histopathologically confirmed developmental tumours [nine dysembryoplastic neuroepithelial tumours (DNET), ten gangliogliomas (GG) and two gangliocytomas (GC)] and related epilepsy, analyzing video-EEG, MRI and neuropsychological data, before and after surgery. Most children had focal epilepsy correlating well with lesion location. One patient had epileptic spasms and generalized discharges. Tumours were located in the temporal lobe in 13 patients. Mean age at surgery was 11.16 years. Postsurgical MRI showed residual tumour growth in one DNET. One child had a recurrent ganglioglioma with anaplastic transformation. At latest follow-up (mean 4.68 years) 95.2% of patients were seizure-free and no significant neuropsychological declines were observed. Evidence from our study suggests that, in this setting, surgery should be performed before criteria for refractory epilepsy are met, particularly in cases with early seizure onset, in order to optimize cognitive outcome.