دورية أكاديمية
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
| العنوان: | Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study |
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| المؤلفون: | Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco |
| المصدر: | International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024) |
| بيانات النشر: | MDPI AG, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | epilepsy, developmental and epileptic encephalopathies, outcome, genetics, drugresistance, behaviour, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively review the clinical, genetic, EEG, neuroimaging, and outcome data of patients experiencing the onset of epilepsy in the first three years of life, diagnosed and followed up in four Italian epilepsy centres (Epilepsy Centre of San Paolo University Hospital in Milan, Child Neurology and Psychiatry Unit of AUSL-IRCCS di Reggio Emilia, Pediatric Neurology Unit of Vittore Buzzi Children’s Hospital, Milan, and Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia). We included 168 patients (104 with monogenic conditions, 45 with copy number variations (CNVs) or chromosomal abnormalities, and 19 with variants of unknown significance), who had been followed up for a mean of 14.75 years. We found a high occurrence of generalized seizures at onset, drug resistance, abnormal neurological examination, global developmental delay and intellectual disability, and behavioural and psychiatric comorbidities. We also documented differing presentations between monogenic issues versus CNVs and chromosomal conditions, as well as atypical/rare phenotypes. Genetic early-childhood-onset epilepsies and DEE show a very wide phenotypic and genotypic spectrum, with a high risk of complex neurological and neuropsychiatric phenotypes. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/25/2/1248; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms25021248 |
| URL الوصول: | https://doaj.org/article/ada6bc1d4b3e4764896ca76a1f59cb82 |
| رقم الأكسشن: | edsdoj.6bc1d4b3e4764896ca76a1f59cb82 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms25021248 |