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A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data
Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per...
Autores principales: | Laccetta, Gianluigi, Fiori, Simona, Giampietri, Matteo, Ferrari, Annarita, Cetica, Valentina, Bernardini, Manuela, Chesi, Francesca, Mazzotti, Sara, Parrini, Elena, Ciantelli, Massimiliano, Guzzetta, Andrea, Ghirri, Paolo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743415/ https://www.ncbi.nlm.nih.gov/pubmed/31552204 http://dx.doi.org/10.3389/fped.2019.00348 |
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