دورية أكاديمية
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
| العنوان: | Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy |
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| المؤلفون: | Battaglia, Domenica Immacolata |
| المساهمون: | Marini, C, Darra, F, Specchio, N, Mei, D, Terracciano, A, Parmeggiani, L, Ferrari, A, Sicca, F, Mastrangelo, M, Spaccini, L, Canopoli, Ml, Cesaroni, E, Zamponi, N, Caffi, L, Ricciardelli, P, Grosso, S, Pisano, T, Canevini, Mp, Granata, T, Accorsi, P, Battaglia, Domenica Immacolata, Cusmai, R, Vigevano, F, Dalla Bernardina, B, Guerrini, R. |
| بيانات النشر: | James J. Cereghino and Timothy A. Pedley |
| سنة النشر: | 2012 |
| المجموعة: | Università Cattolica del Sacro Cuore: PubliCatt |
| مصطلحات موضوعية: | Adolescent, Adult, Affective Symptoms, Cadherins, Child, Preschool, Cognition Disorders, Computational Biology, DNA Mutational Analysis, Electroencephalography, Female, Follow-Up Studies, Genetic Predisposition to Disease, Humans, Mutation, Neuropsychological Tests, Seizures, Video Recording, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE |
| الوصف: | Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/22946748; info:eu-repo/semantics/altIdentifier/wos/WOS:000312218000013; volume:53; issue:12; firstpage:2111; lastpage:2119; numberofpages:9; issueyear:2012; journal:EPILEPSIA; http://hdl.handle.net/10807/63460Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870608256 |
| DOI: | 10.1111/j.1528-1167.2012.03649.x |
| الإتاحة: | https://doi.org/10.1111/j.1528-1167.2012.03649.xTest http://hdl.handle.net/10807/63460Test |
| رقم الانضمام: | edsbas.4D47D442 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1528-1167.2012.03649.x |
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