المؤلفون: Masnada S., Pichiecchio A., Formica M., Arrigoni F., Borrelli P., Accorsi P., Bonanni P., Borgatti R., Bernardina B. D., Danieli A., Darra F., Deconinck N., De Giorgis V., Dulac O., Gataullina S., Giordano L., Guerrini R., La Briola F., Mastrangelo M., Montomoli M., Mortilla M., Osanni E., Parisi P., Perucca E., Pinelli L., Romaniello R., Severino M., Vigevano F., Vignoli A., Bahi-Buisson N., Cavallin M., Accogli A., Burgeois M., Capra V., Chaves-Vischer V., Chiapparini L., Colafati G., D'Arrigo S., Desguerre I., Doco-Fenzy M., d'Orsi G., Epitashvili N., Fazzi E., Ferretti A., Fiorini E., Fradin M., Fusco C., Granata T., Johannesen K. M., Lebon S., Loget P., Moller R. S., Montanaro D., Orcesi S., Quelin C., Rebessi E., Romeo A., Solazzi R., Spagnoli C., Uebler C., Zara F., Arzimanoglou A., Veggiotti P.

المساهمون: Masnada, S., Pichiecchio, A., Formica, M., Arrigoni, F., Borrelli, P., Accorsi, P., Bonanni, P., Borgatti, R., Bernardina, B. D., Danieli, A., Darra, F., Deconinck, N., De Giorgis, V., Dulac, O., Gataullina, S., Giordano, L., Guerrini, R., La Briola, F., Mastrangelo, M., Montomoli, M., Mortilla, M., Osanni, E., Parisi, P., Perucca, E., Pinelli, L., Romaniello, R., Severino, M., Vigevano, F., Vignoli, A., Bahi-Buisson, N., Cavallin, M., Accogli, A., Burgeois, M., Capra, V., Chaves-Vischer, V., Chiapparini, L., Colafati, G., D'Arrigo, S., Desguerre, I., Doco-Fenzy, M., D'Orsi, G., Epitashvili, N., Fazzi, E., Ferretti, A., Fiorini, E., Fradin, M., Fusco, C., Granata, T., Johannesen, K. M., Lebon, S., Loget, P., Moller, R. S., Montanaro, D., Orcesi, S., Quelin, C., Rebessi, E., Romeo, A., Solazzi, R., Spagnoli, C., Uebler, C., Zara, F., Arzimanoglou, A., Veggiotti, P.

مصطلحات موضوعية: Adolescent, Adult, Aicardi Syndrome, Basal Ganglia, Brain, Child, Preschool, Drinking, Drug Resistant Epilepsy, Eating, Electroencephalography, Female, Human, Infant, Magnetic Resonance Imaging, Motor Skill, Retina, Retrospective Studie, Seizure, Treatment Outcome, Young Adult

الوصف: OBJECTIVE: Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed. METHODS: Only patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed. RESULTS: Patients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56% of our patients. Statistical analysis revealed correlations between MRI, EEG at onset, and clinical outcome. On brain imaging, 100% of the patients displayed corpus callosum malformations, 98% cortical dysplasia and nodular heterotopias, and 96.36% intracranial cysts (with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63% of cases) should also be considered a common feature in AIC, our study highlighted the presence (in 76.36%) of basal ganglia dysmorphisms (never previously reported). CONCLUSION: The AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33277420; info:eu-repo/semantics/altIdentifier/wos/WOS:000657054500016; volume:96; firstpage:e1319; lastpage:e1333; numberofpages:14; journal:NEUROLOGY; https://hdl.handle.net/11567/1044533Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102538218

الإتاحة: https://doi.org/10.1212/WNL.0000000000011237Test
https://hdl.handle.net/11567/1044533Test

المؤلفون: Chaves Vischer V., Picard F., Andermann E., Andermann F., DALLA BERNARDINA, Bernardo

المساهمون: a cura di C.W. Bazil, B.A. Malow, M.R. Sammaritano, Chaves Vischer, V., Picard, F., Andermann, E., DALLA BERNARDINA, Bernardo, Andermann, F.

وصف الملف: STAMPA

العلاقة: ispartofbook:Sleep and Epilepsy: the Clinical Spectrum; firstpage:283; lastpage:289; numberofpages:7; alleditors:a cura di C.W. Bazil, B.A. Malow, M.R. Sammaritano; http://hdl.handle.net/11562/13413Test

الإتاحة: http://hdl.handle.net/11562/13413Test

المؤلفون: Chaves Vischer V., Picard F., Andermann E., Andermann F., DALLA BERNARDINA, Bernardo

المساهمون: Chaves Vischer, V., Picard, F., Andermann, E., DALLA BERNARDINA, Bernardo, Andermann, F.

وصف الملف: STAMPA

العلاقة: volume:23; issue:8; firstpage:1491; lastpage:1493; numberofpages:3; journal:NEUROUROLOGY AND URODYNAMICS; http://hdl.handle.net/11562/21239Test

الإتاحة: http://hdl.handle.net/11562/21239Test

المؤلفون: Seeck, M., Zaim, S., Chaves-Vischer, V., Blanke, O., Maeder-Ingvar, M., Weissert, M., Roulet, E.

المصدر: http://infoscience.epfl.ch/record/154906Test.

الوصف: We report on a three and a half year old child with episodic sinus bradycardia during habitual seizures and prolonged interictal discharges due to focal cortical dysplasia in the anterior 2/3 of the insula and the inferior frontal cortex. Seizure-induced bradycardia is rarely reported in children. Bradycardia is suspected to be related to sudden death, a rare complication of a chronic seizure disorder. Several well-documented cases in adult patients reveal a high incidence of temporal epilepsy, but MRI and PET studies in healthy subjects suggest a major role of the insular cortex, especially the right, in cardiac regulation. Our finding underlines the predominance of the right insula in cardiac control, which already seems to be present in children.

العلاقة: http://infoscience.epfl.ch/record/154906Test; https://infoscience.epfl.ch/record/154906/files/2003_Seeck_EJPN_ictal%20bradycardia%20in%20a%20young%20child%20with%20focal%20cortical%20dysplasia%20in%20the%20right%20insular%20cortex.pdfTest

الإتاحة: https://doi.org/10.1016/S1090-3798Test(03)00051-5
http://infoscience.epfl.ch/record/154906Test
https://infoscience.epfl.ch/record/154906/files/2003_Seeck_EJPN_ictal%20bradycardia%20in%20a%20young%20child%20with%20focal%20cortical%20dysplasia%20in%20the%20right%20insular%20cortex.pdfTest

المؤلفون: Dubois, C.M., Gianella, D., Chaves-Vischer, V., Haenggeli, C.A., Deonna, T., Roulet Perez, E.

المصدر: Neuropediatrics, vol. 35, no. 1, pp. 50-53

مصطلحات موضوعية: Child, Preschool, Electroencephalography, Epilepsy, Temporal Lobe/complications, Temporal Lobe/diagnosis, Humans, Language Disorders/diagnosis, Language Disorders/etiology, Language Tests, Male, Neuropsychological Tests, Prospective Studies, Severity of Illness Index, Speech Disorders/diagnosis, Speech Disorders/etiology

الوصف: A 2-year-old boy presented with an early form of benign partial epilepsy with centro-temporal spikes (BCERS) and a severe speech delay. Family video analysis revealed an early regression of babbling and stagnation since the age of 12 months. Complete recovery occurred with anti-epileptic treatment. The deficit corresponded to a transient speech apraxia attributed to an epileptic disconnection of networks coordinating speech articulation. This observation is, to the best of our knowledge, the first demonstration that delayed emergence of language can be due to an epileptic dysfunction interfering with prelinguistic skills and therefore mimicking a developmental delay.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15002053; info:eu-repo/semantics/altIdentifier/pissn/0174-304X; https://serval.unil.ch/notice/serval:BIB_177C987E1FA3Test

الإتاحة: https://doi.org/10.1055/s-2004-815792Test
https://serval.unil.ch/notice/serval:BIB_177C987E1FA3Test

المؤلفون: Seeck, M., Zaim, S., Chaves-Vischer, V., Blanke, O., Maeder-Ingvar, M., Weissert, M., Roulet, E.

المصدر: European Journal of Paediatric Neurology : EJPN, vol. 7, no. 4, pp. 177-181

مصطلحات موضوعية: Bradycardia/diagnosis, Bradycardia/etiology, Brain Diseases/complications, Brain Diseases/pathology, Cerebral Cortex/pathology, Cerebral Cortex/physiopathology, Child, Preschool, Electrocardiography, Electroencephalography, Female, Frontal Lobe/pathology, Frontal Lobe/physiopathology, Functional Laterality/physiology, Humans, Magnetic Resonance Imaging, Seizures/diagnosis, Seizures/etiology

الوصف: We report on a three and a half year old child with episodic sinus bradycardia during habitual seizures and prolonged interictal discharges due to focal cortical dysplasia in the anterior 2/3 of the insula and the inferior frontal cortex. Seizure-induced bradycardia is rarely reported in children. Bradycardia is suspected to be related to sudden death, a rare complication of a chronic seizure disorder. Several well-documented cases in adult patients reveal a high incidence of temporal epilepsy, but MRI and PET studies in healthy subjects suggest a major role of the insular cortex, especially the right, in cardiac regulation. Our finding underlines the predominance of the right insula in cardiac control, which already seems to be present in children.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12865058; info:eu-repo/semantics/altIdentifier/pissn/1090-3798; https://serval.unil.ch/notice/serval:BIB_BA92F5FAEAC7Test

الإتاحة: https://doi.org/10.1016/S1090-3798Test(03)00051-5
https://serval.unil.ch/notice/serval:BIB_BA92F5FAEAC7Test

المؤلفون: Chaves-Vischer, V, Picard, Fabienne, Andermann, E, Dalla Bernardina, B, Andermann, F

المصدر: ISSN: 0028-3878 ; Neurology, vol. 57, no. 8 (2001) p. 1491-1493.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, Child, Preschool, Follow-Up Studies, Hemiplegia / physiopathology, Humans, Male, Prognosis, Sleep

الوصف: Benign familial nocturnal alternating hemiplegia of childhood refers to recurrent attacks of hemiplegia arising from sleep, described in young children without neurologic or mental impairment. It is probably migraine related. The authors report two unrelated patients with nocturnal attacks starting at 22 and 31 months, followed by daytime episodes in one. The authors confirm the benign course of this disorder. It is distinct from the classic malignant form of alternating hemiplegia of childhood.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11673597; https://archive-ouverte.unige.ch/unige:160759Test; unige:160759

الإتاحة: https://doi.org/10.1212/wnl.57.8.1491Test
https://archive-ouverte.unige.ch/unige:160759Test

المؤلفون: Chaves–Vischer, V., Picard, F., Andermann, E., Dalla Bernardina, B., Andermann, F.

المصدر: Neurology ; volume 57, issue 8, page 1491-1493 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.57.8.1491Test

المؤلفون: Chaves Vischer, V., Picard, F., Andermann, E., DALLA BERNARDINA, Bernardo, Andermann, F.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1943::4c77dd2492cc50078ed3e91a9d21354dTest
http://hdl.handle.net/11562/13413Test

المؤلفون: Habre, W., Caflisch, M., Chaves-Vischer, V., Delavelle, J., Haenggeli, Ch.

المصدر: Neuropediatrics ; volume 27, issue 06, page 323-325 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/s-2007-973802Test