Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy

We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to s...

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Detalles Bibliográficos
Autores principales: Dilena, Robertino, Mauri, Eleonora, Di Fonzo, Alessio, Bana, Cristina, Ajmone, Paola Francesca, Rigamonti, Claudia, Catenio, Tamara, Gangi, Silvana, Striano, Pasquale, Fumagalli, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329581/
https://www.ncbi.nlm.nih.gov/pubmed/35911888
http://dx.doi.org/10.3389/fneur.2022.942582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329581/
https://www.ncbi.nlm.nih.gov/pubmed/35911888
http://dx.doi.org/10.3389/fneur.2022.942582

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