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The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses, particularly those of “actionable” genes in diagnostic situations, involving specific treatment and/or management. In our project, we carried out an objective assessment of the clinical actionability of genes involved in myopathies, for which only few data obtained methodologically exist to date. Using the ClinGen Actionability criteria, we scored the clinical actionability of all 199 genes implicated in myopathies published by FILNEMUS for the “National French consensus on gene Lists for the diagnosis of myopathies using next generation sequencing”. We objectified that 63 myopathy genes were actionable with currently available data. Among the 36 myopathy genes with highest actionability scores, only 8 had been scored to date by ClinGen. The data obtained through these methodological tools are an important resource for strategic choices in diagnostic approaches and the management of genetic myopathies. The clinical actionability of genes has to be considered as an evolving concept, in relation to progresses in disease knowledge and therapeutic approaches.

International audience; The transfer of adolescents from paediatric care to adult health facilities is often difficult for the patients and their families and can lead to a breakdown in medical follow-up and therefore serious complications. Existing recommendations for the successful transition of patients with chronic disorders do not specifically address patients with handicap. Preparations for the transfer must be made well in advance. They must aim to achieve the autonomisation of adolescents by making them responsible and providing them with the knowledge that will enable them to manage their care themselves, the know-how to react appropriately if there is any change in their condition, and to move comfortably within the adult health system. This requires the active participation of the patient, his or her family and the paediatric and adult care teams. It involves multidisciplinary management plus the production and maintenance of an educational therapy programme. Finally, the identification of doctors trained in handicap, relevant sub-specialists and even expert patients could enable improvements in the continuum of complete and appropriate care for these patients within adult medicine.

Tuberous sclerosis (TSC) epilepsy includes infantile spasms and focal seizures before the age of 2 years, whereas focal seizures are predominant over 2 years and generalized seizures may occasionally be part of Lennox-Gastaut syndrome. The better and earlier the seizure control, the better the child's subsequent cognitive and behavioral prognosis. As for epilepsy of other causes, therapeutic options depend on the type of seizure/epilepsy, age and drug resistance, but there are significant specificities for TSC. (1) As first-line treatment, vigabatrin is unanimously recommended for infantile spasms and focal seizures before 2 years and is also widely used for seizures over 2 years, as are levetiracetam and carbamazepine. (2) If seizures persist (about 40% of children and adolescents), cannabidiol and everolimus, an inhibitor of the mTOR pathway, have recently been approved as adjunctive therapy to the arsenal of antiseizure medications authorized for this age group and to the ketogenic diet. (3) Surgery is an essential treatment option in cases of drug resistance and should be discussed as soon as two treatments have failed. Presurgical investigations and operating techniques have recently progressed spectacularly, for example laser thermocoagulation with stereotactic location. A particularity of TSC is the possibility of sequential interventions on several epileptogenic tubers. (4) Finally, the innovative principle of initiating "pre-seizure" treatment with vigabatrin from the first months of life has just proven effective on the subsequent development of epilepsy in TSC. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Introduction and objective Information on the spectrum and frequencies of pediatric neurological presentations to emergency departments is vital to optimize quality of care. The objective of this study was to determine the incidence of pediatric neurological emergencies and to analyze the impact of specialist neurological advice in emergency care. Patients and methods We performed a retrospective descriptive study of pediatric emergency room visits for neurological reasons at the Timone University Hospital in Marseille over a 6-month period (from October 2017 to March 2018). Results Of the 14,572 emergencies analyzed, 370 (2.5%) were for neurological conditions. These were most commonly seizures (56.7% of cases), headache (19.7%), and motor or sensory deficits (5.1%). The most frequent diagnosis was epileptic seizure (30%), followed by febrile seizure (26.1%) and migraine (15%). Around two in every five patients (37.6%) required hospitalization. Neurological emergencies requiring critical care occurred at a frequency of about one per month (1.6% of cases). A pediatric neurologist was consulted in 37.3% of cases, resulting in a modification of the diagnosis or treatment in 66% of these referrals. Conclusion The results of this study suggest that a formal referral system between the emergency department and pediatric neurologists would be useful.

The objective of this study was to investigate the adaptive functioning of adults who had a slight to moderate intellectual deficiency, in regard of age and intellectual quotient (IQ). Cognitive and adaptive functioning were evaluated using the WAIS and VINELAND scales in 16 adults who accepted to participate in this study. We found a correlation between global IQ and each domain of the adaptive score, mostly communication skills. We also found that there was an age effect on socialization skills. Most skills were learned during infancy and adolescence, especially communication skills, which are highly stable at different ages and highly correlated with IQ. However, some abilities are still acquired in adulthood, mostly socialization skills, especially in persons with the lowest IQ. These data are of particular interest for people caring for disabled adults.

The prenatal finding of a head circumference (HC) below the 3rd percentile (p) remains, in the same way as short femur or increased nuchal translucency with normal karyotype, one the most difficult situations for the praticionner in the setting of prenatal diagnosis. Microcephaly is a gateway to possible cerebral pathologies, but the main objective is to identify serious prenatal situations. A standardized HC measurement, the use of adapted reference tools and charts, longitudinal following of cephalic biometrics in high-risk situations, and systematic central nervous system analysis can increase the diagnostic performance of ultrasound which is often disappointing for microcephaly. The early distinction between associated or isolated microcephaly makes it possible to quickly orient the prenatal management and counseling. Fetal MRI and genetic counseling are fundamental in this context, making it possible to specify at best the etiological diagnosis and to provide assistance to the neuropediatrician in the establishment of an often uncertain prognosis. The recent increase in cases of microcephaly concomitant with the epidemic of the ZIKA virus is an additional argument to improve our practices and the daily apprehension of HC3rd p.

Febrile seizures (FS) are the most common seizures seen in the paediatric population in the out-of-hospital and emergency department settings, and they account for the majority of seizures seen in children younger than 5 years old. An FS is a seizure accompanied by fever, without central nervous system infection, occurring in children between 6 months and 5 years old. Five criteria have been used and taught to classify any FS as simple or complex FS. These factors do not bear the same significance for clinical practice, in particular, the decision to perform a lumbar puncture for cerebrospinal fluid analysis to rule out an intracranial infection. Moreover, epidemiological studies have illustrated that some factors are predictive of febrile seizure recurrence while others are predictive of epilepsy occurrence. On this basis, a workshop was organized to provide an answer to three clinical practice questions: when should a lumbar puncture be performed in a child who has experienced a seizure during a fever episode, is the prescription of a rescue drug required with a risk of a prolonged febrile seizure recurrence, when should a neurological consultation be requested (risk of later epilepsy)? Based on a review of the literature and on a 1-day workshop, we report here the conclusion of the working group. A lumbar puncture is required in any child with meningitis symptoms or septic signs or behaviour disturbance. A lumbar puncture should be discussed based on the clinical symptoms and their progression over time when a child has experienced a focal FS or repetitive FSs without signs of meningitis or sepsis or behaviour disturbance. The lumbar puncture is not necessary in case of simple FS without signs of meningitis, including in infants between 6 and 12 months old. An early clinical evaluation (at least 4 h after the first clinical assessment) could be helpful, in particular in infants younger than 12 months of age. A rescue drug might be prescribed when there is a high risk of prolonged FS (i.e., risk higher than 20%): age at FS12months OR a history of a previous febrile status epilepticus OR if the first FS was a focal seizure OR abnormal development/neurological exam/MRI OR a family history of nonfebrile seizure. A neurological consultation should be requested for any child who has experienced a prolonged FS before the age of 1 year, for children who have experienced prolonged and focal FS or repetitive (within 24h) focal FS, for children who have experienced multiple complex (focal or prolonged or repetitive) FS, for children with an abnormal neurological exam or abnormal development experiencing a FS. Although childhood febrile seizures in most cases are benign, witnessing such seizures is always a terrifying experience for the child's parents. Most parents feel that their child is dying or could have severe brain injury related to the episode. Therefore, the group also suggests a post-FS visit with the primary care physician.

The objective of this study was to investigate the adaptive functioning of adults who had a slight to moderate intellectual deficiency, in regard of age and intellectual quotient (IQ). Cognitive and adaptive functioning were evaluated using the WAIS and VINELAND scales in 16 adults who accepted to participate in this study. We found a correlation between global IQ and each domain of the adaptive score, mostly communication skills. We also found that there was an age effect on socialization skills. Most skills were learned during infancy and adolescence, especially communication skills, which are highly stable at different ages and highly correlated with IQ. However, some abilities are still acquired in adulthood, mostly socialization skills, especially in persons with the lowest IQ. These data are of particular interest for people caring for disabled adults.

Introduction L‘hemispherotomie verticale para sagittale decrite par O. Delalande est un geste neurochirurgical de deconnection hemispherique. Elle est indiquee dans le traitement des epilepsies refractaires dont la zone epileptogene est largement etendue sur un hemisphere. Nous rapportons notre experience des dix dernieres annees. Materiel et methodes Entre 2008 et 2018, 11 patients (6 filles et 5 garcons) ont beneficie d’une hemispherotomie verticale para sagittale pour une epilepsie refractaire au traitement medicamenteux bien conduit dans le service de Neurochirurgie pediatrique de Marseille. Tous les patients ont beneficie d’un bilan pre operatoire complet (EEG, Video EEG, Pet Scan, IRM, Bilan neuropsychologique) et ont ete discute en reunion multidisciplinaire de chirurgie de l’epilepsie pediatrique. Tous les enfants ont beneficie de la technique de Delalande. Ils ont ete revus en consultation a 1 mois, 6 mois puis de facon annuelle. Tous ont beneficie d’un examen anatomopathologique sur le cortex reseque. Resultats Sur les 11 enfants, 4 presentaient une encephalite de Rasmussen (36,4 %), 4 autres souffraient d’une hemimegalencephalie (36,4 %), 2 presentaient une dysplasie corticale etendue (18,2 %) enfin un enfant presentait une epilepsie secondaire a un accident vasculaire cerebrale ischemique. Tous les patients ont eu une remission complete postoperatoire immediate des manifestations epileptiques, dont 8 (72,8 %) restent stables pendant le suivi. Pour les autres 3 patients (27,3 %), on a note une re-apparition des crises a distance durant le suivi (18–36 mois postoperatoire). Un patient a ete repris au bloc operatoire pour une deconnexion incomplete, avec une remission totale des crises apres le geste complementaire. Les complications postoperatoires sont centrees sur l’hemiparesie controlaterale, presente chez 100 % des enfants. le deficit predomine a distance sur le membre superieur. Nous n’avons pas enregistre d’hydrocephalies postoperatoires. Deux patients (18,2 %) ont presente une collection sous-durale homolaterale, traitee par une derivation sous-duro-peritoneale, avec une bonne evolution. Ces HSD nous ont conduits a modifier notre technique operatoire. Conclusion L’hemispherotomie verticale para sagittale est un traitement efficace des epilepsies refractaires hemispheriques. Elle permet un controle complet des crises chez la majorite des enfants et une qualite de vie optimale. La recidive de crises a distance doit faire envisager une deconnexion incomplete et envisager un second temps chirurgical. Les HSD peuvent etre eviter par une modification simple de la technique.

PURPOSE: Morphologic abnormalities of the hippocampal formations (MAHF) are more frequently observed in magnetic resonance imaging (MRI). We wished to specify the types of disorders associated with these malformations based on a retrospective case series by studying the language of the children presenting these abnormalities. PATIENTS AND METHODS: From the data of all the MRIs taken in the neuroradiology ward of our center over 16 months in patients under 18 years of age, we retrospectively selected the children with an MAHF, isolated or associated with other malformations. The MAHFs were defined and described according to criteria of shape or orientation defects of the hippocampal formations. We studied the files of the patients with isolated MAHF again. Those whose clinical presentation was compatible with language assessment were tested in a prospective approach. RESULTS: Out of 2208 MRIs from 1 January 2007 to 30 April 2008, 96 (4.3%) showed an MAHF, including 61 (64%) boys and 35 (36%) girls, aged from 2 months to 17 years. Eighty-two (85%) had associated abnormalities, mainly including cerebral atrophy, corpus callosum agenesis or defect, and abnormal ventricular frontal horns. Fourteen (15%) had an isolated MAHF: 2 on the left hemisphere, 2 on the right hemisphere, and 10 on both. Of these 14, 9 were compatible with language assessment. From the test results, we divided these children into 2 groups, depending on the type and severity of the impairment. Four had very serious language disorders as part of mental retardation or autistic disorders; 4 others had language disorders predominantly in expression and phonology, with weak to pathological visual memory. This study showed no potential relation between the lateralization of MAHF and language disorders, nor between the existence of epilepsy and the severity of the language disorders. Of these 14 children, 9 had behavior and autism spectrum disorders and 7 were epileptic. CONCLUSION: Even though language disorders are often part of a larger deficiency presentation, the results we obtained suggest that isolated MAHFs are not only causes of amnestic disorders, but they could also directly underlie language disorders, particularly in expression.

Acute necrotizing encephalopathy is a rare neurologic disease most often triggered by a febrile viral event affecting an otherwise healthy infant. The clinical course is characterized by rapid deterioration of the neurological condition that often leads to coma and requires intensive care. The diagnosis is usually suggested by MRI, which shows symmetrical and focal necrotic lesions of thalami. Acute necrotizing encephalopathy has been linked in recent studies to an autosomal-dominant mutation of the gene for the protein RAN-binding protein 2.We report three cases in siblings of Tunisian origin. Two of them presented with acute necrotizing encephalopathy at the age of 9 months in the immediate aftermath of a viral infection. The molecular study conducted in the family showed that both patients and their mother were carriers of the missense mutation gene RAN-binding protein 2.Although the role of Ran BP2 protein is incompletely known, mutation of the RANBP2 gene causes rare, reversible central neurologic disorders. Suspected diagnosis is facilitated by MRI, which shows specific lesions of multifocal, symmetric involvement of the thalami, brainstem tegmentum, supratentorial white matter, and cerebellum. Due to the low frequency of the disease and its non-specific clinical presentation, the diagnosis of acute necrotizing encephalopathy is a major challenge, while preventative measures can be proposed in familial mutation.

Place: France; Devic neuromyelitis optica (NMO) is an inflammatory demyelinating disease of the central nervous system associating acute transverse myelitis and optic neuritis. This is a different disease from multiple sclerosis for which the presence of the NMO antibody directed against aquaporin 4 is a specific marker. Brain damage on MRI does not exclude the diagnosis; the location is superposable in the brain zones rich in aquaporin 4 channels. We report 2 cases of NMO with anti-aquaporin 4. One patient was not symptomatic of brain damage. In this patient, the affinity of anti-NMO for aquaporin 4, studied by flow cytometry, was particularly high. Both patients were treated with immunosuppressive agents (rituximab) due to the failure of or dependence on high-dose corticosteroids.

Education program for patients (EPP) is now a part of the management of patients with chronic disease. According to WHO, the EPP is designed to help patients to maintain or gain self-care skills and adaptive skills necessary to improve their health and their quality of life. Patient education programs have been developed in recent years in several chronic diseases such as diabetes and asthma. In the field of epilepsy, however, adult and child programs have been developed only recently in France. We evaluate the interests for the establishment of an EPP and the topics that the parents and the adolescents would like to be discussed in such courses.We conducted a qualitative survey, based on interviews of parents of epileptic children and adolescents. The survey was conducted between April and November 2010 in pediatric neurology services of four French university hospitals: Amiens, Nancy, Marseille, and in Robert Debré (Paris) hospital. We investigated the following issues: treatment and self-management, and seizure management, psychosocial difficulties related to epilepsy, anatomical and physiological knowledge of epilepsy and lifestyle.Two topics seem to have the greatest interest for parents of children with epilepsy and adolescents: knowledge about seizures and knowledge of anatomy and physiology of the brain. Adolescents involved in this study gave consistently lower scores in all items compare to parents of children.The medical management of children and adolescents with epilepsy, and their caregivers, is a comprehensive care including the EPP in order to provide a full management of all issues raised by epilepsy. The survey identified key-points that parents and their children would like to learn in an EPP. These data would be helpful to design an EPP.

Mitochondrial disease is a heterogeneous disorder entity induced by defects in the mitochondrial respiratory chain complex. Neurological symptoms, including epilepsy, are common in children. The aim of this study was to research the clinical signs indicating mitochondrial disease.We retrospectively studied epileptic children who underwent a muscle and/or hepatic biopsy between 1995 and 2010 searching for a mitochondrial disease. Patients were separated into 2 groups depending on the biopsy result: group 1 (presence of mitochondrial disease) and group 2 (absence of mitochondrial disease). Epileptic phenotypes were compared between these 2 groups. In group 1, we specified the clinical phenotype and characterized mitochondrial disease.Fifty-three children were included: 29 in group 1 and 24 in group 2. The average age at onset of epilepsy was 39.6 months in group 1 versus 11.8 months in group 2. In the 1st group, epilepsy was less refractory and associated with other clinical symptoms.In this study, epilepsy did not appear to be a unique sign of mitochondrial disease. It most often appeared during the 2nd year of life and is correlated with multiorgan involvement, notably ophthalmologic, such as oculomotor apraxia, optic atrophy, and retinitis pigmentosa, as well as auditory (deafness) and hepatic (hepatic failure, hepatomegaly). On the other hand, in children who did not have mitochondrial disease, epilepsy often began earlier (before 3 months of age), it was refractory, isolated without multiorgan involvement, and seems to be due to genetic anomalies in developmental genes, a finding that requires further research.

The association of type 1 diabetes mellitus (DM) and epilepsy has been previously reported. However, the physiopathology of this association remains misunderstood.To describe epilepsy combined with type 1 DM in children.Retrospective monocentric study of all the epileptic and type 1 diabetic children consulting at the Timone University Hospital, Marseille, France. For each patient, the type of epilepsy and its electroclinical and radiographic characteristics were studied as well as the type of diabetes (biological characteristics, glycemic control), and the onset of these 2 diseases.Ten patients are reported. Five suffered from generalized epilepsy (4 idiopathic, 1 nonidiopathic) and 5 from focal epilepsy (4 non-idiopathic, 1 idiopathic). For most of these cases, presence of GAD (glutamic acid decarboxylase) autoantibodies were confirmed and epilepsy followed diabetes.The 2 most common types of epilepsy in this association are idiopathic generalized epilepsy and non-idiopathic temporal epilepsy. Several mechanisms could be involved (immune, glycemia, and genetic disorders).

Background: There have been few epidemiologic studies on neuromyelitis optica (NMO) and none used the recent 2006 diagnostic criteria. Here we describe the clinical, laboratory, MRI, and disability course of NMO in a French cohort of 125 patients. Methods: We performed an observational, retrospective, multicenter study. Data were collected from September 2007 through August 2008, corresponding to the endpoint of the study. We identified 125 patients fulfilling the 2006 NMO criteria. Selection was made using hospital files and a specific clinical questionnaire for NMO. Results: Mean age at onset was 34.5 years (range 4–66) with a mean disease duration of 10 ± 7.8 years at the endpoint. The patients were mainly (87%) Caucasian, with a female:male ratio of 3:1. In 90% of cases, the association of optic neuritis, longitudinal extensive myelitis, and a Paty-negative initial brain MRI was sufficient to fulfill the supportive criteria. Eighty-eight percent of patients were treated with immunosuppressive therapies. Median delay from onset to Expanded Disability Status Scale (EDSS) score 4 was 7 years; score 6, 10 years; and score 7, 21 years. The first episode of myelitis was immediately followed by an EDSS score ≥4 in 37.3% of cases, and a severe residual visual loss was observed in 22% of patients after the first episode of optic neuritis. Multivariate analysis did not reveal any predictors of a poor evolution other than a high number of MRI brain lesions at diagnosis, which were predictive of a residual visual acuity ≤1/10. Conclusions: Our demographic data provide new data on disability in patients with neuromyelitis optica, most of whom were receiving treatment.

Morphologic abnormalities of the hippocampal formations (MAHF) are more frequently observed in magnetic resonance imaging (MRI). We wished to specify the types of disorders associated with these malformations based on a retrospective case series by studying the language of the children presenting these abnormalities.From the data of all the MRIs taken in the neuroradiology ward of our center over 16 months in patients under 18 years of age, we retrospectively selected the children with an MAHF, isolated or associated with other malformations. The MAHFs were defined and described according to criteria of shape or orientation defects of the hippocampal formations. We studied the files of the patients with isolated MAHF again. Those whose clinical presentation was compatible with language assessment were tested in a prospective approach.Out of 2208 MRIs from 1 January 2007 to 30 April 2008, 96 (4.3%) showed an MAHF, including 61 (64%) boys and 35 (36%) girls, aged from 2 months to 17 years. Eighty-two (85%) had associated abnormalities, mainly including cerebral atrophy, corpus callosum agenesis or defect, and abnormal ventricular frontal horns. Fourteen (15%) had an isolated MAHF: 2 on the left hemisphere, 2 on the right hemisphere, and 10 on both. Of these 14, 9 were compatible with language assessment. From the test results, we divided these children into 2 groups, depending on the type and severity of the impairment. Four had very serious language disorders as part of mental retardation or autistic disorders; 4 others had language disorders predominantly in expression and phonology, with weak to pathological visual memory. This study showed no potential relation between the lateralization of MAHF and language disorders, nor between the existence of epilepsy and the severity of the language disorders. Of these 14 children, 9 had behavior and autism spectrum disorders and 7 were epileptic.Even though language disorders are often part of a larger deficiency presentation, the results we obtained suggest that isolated MAHFs are not only causes of amnestic disorders, but they could also directly underlie language disorders, particularly in expression.

Glutamate is the main excitatory transmitter in the central nervous system. It plays major roles in the development of the brain, including neurogenesis, migration, and synapse formation. It is also involved in many aspects of normal brain function, including learning and memory. However, glutamate acts also as a powerful neurotoxin and is involved in many neurodegenerative diseases and disorders of uncontrolled excitability – such as epilepsy. The physiological or pathological function of glutamate is, in part, determined by its spatiotemporal concentration profile in the extracellular space, which is in turn controlled by the neuronal and the glial cell-surface membrane glutamate transporters (GluTs). The primary function of these transporters is to uptake and transport glutamate from the extracellular to the intracellular space, where glutamate may be used for neurotransmission or metabolic needs. This article focuses on the main function of the GluTs in the central nervous system, and their key role during development for the control of cortical network activity and the prevention of epileptic seizures.

GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency syndrome. Ketogenic diet is an effective treatment of epileptic manifestations but it has less effect on the cognitive symptoms. We report on a child who presented with paroxistical events often occurring prior to meals, developmental delay, microcephaly and spasticity. CSF and serum glucose levels measured simultaneously showed a CSF/serum glucose ratio of 0.39. Molecular analysis identified a heterozygous novel mutation.

Epileptic seizures can be difficult to recognize in infancy and childhood because the semeiology can be misleading. Already, in the acute phase, precise assessment of the seizure is required, with active questioning about circumstances of occurrence, clinical manifestations and postictal symptoms. Laboratory tests and toxicologic screening should only be performed according to the circumstances and clinical examination in order to distinguish between symptomatic seizure and epilepsy at the beginning. Epilepsy consists in repetition of several unprovoked epileptic seizure. Assessment of the age of onset, type of seizures, interictal EEG and the neuropsychological profile are instrumental for both the diagnosis of epileptic syndrome and the choice of the right treatment. Epileptic seizures cause distress to parents and the fear they experience of death must always be taken into account.

Introduction Une crise d’epilepsie est un signe frequent inaugural d’un accident vasculaire cerebral chez l’enfant. Vingt-cinq pour cent de ces enfants vont presenter une epilepsie. La frequence de l’epilepsie refractaire varie de 0 a 6O % dans la litterature. L’hemispherotomie fonctionnelle est actuellement le « gold standard » lors de la prise en charge neurochirurgicale. Nous rapportons pour la premiere fois notre experience de deconnexion sus-insulaire guidee par SEEG des aires « centrales » chez ces enfants. Materiels et methode Suivi prospectif. 2 enfants de 12 et 13 ans. Epilepsie refractaire evoluant depuis 6 ans pour l’un et 5 ans pour l’autre suite a un AVC ischemique sylvien etendu, de cause inconnue malgre un bilan exhaustif. Un bilan complet pre chirurgical a ete realise associant, EEG, video–EEG, champ visuel, Pet TDM, IRM morphologique et fonctionnelle ainsi qu’un bilan neuropsychologique. La frequence des crises est variable, pluri quotidiennes chez la fille et pluri-hebdomadaires pour le garcon. Les chutes sont frequentes avec presence de traumatismes violents retrouves dans l’historique. Une SEEG sans cadre controlee par la neuronavigation a ete realisee chez les 2 enfants dans l’idee de realiser une deconnexion fonctionnelle epargnant les regions non epileptogenes. Resultats Pour ces 2 enfants, la SEEG a permis de visualiser plusieurs crises habituelles. La zone ZE a pu etre delimitee par correlations electro-cliniques et confirmee par le calcul de l’index d’epileptogenicite sur les differentes electrodes impliquees. La ZE etait a chaque fois centree par le foyer ischemique et entourait le sillon central. Nous avons implante 11 electrodes chez le garcon et 12 chez la fille. Il n’y avait aucun argument pour une ZE temporale ou occipitale associee. Le bilan neuropsychologique restait dans la normale faible. Une deconnexion sus insulaire de la ZE a ete realisee. Les 2 enfants sont classes actuellement Engel 1 avec un suivi moyen de 11 mois. L’hemiplegie post-operatoire a recupere en 3 semaines. Les 2 enfants ont ameliore leur autonomie et ont repris une scolarisation normale avec AVS. La diminution des traitements oraux a ete debutee. Conclusion La deconnexion sus insulaire guidee par SEEG de la ZE permet une deconnexion respectant au mieux les regions saines et les grands faisceaux de substance blanche. Elle nous parait representer une veritable alternative fonctionnelle a l’hemispherotomie chez ces enfants. La preservation des structures occipitales et temporales doit ameliorer la qualite de vie de ces enfants et probablement leurs resultats scolaires. L’etude SEEG est un imperatif dans la prise de decision. Nous rapportons les 2 premiers cas de deconnexion sus insulaire de la ZE chez des enfants presentant une epilepsie refractaire apres AVC ischemique sylvien large. Ces resultats doivent etre confirmes a l’avenir.