Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals...

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Detalles Bibliográficos
Autores principales: Al Yazidi, Ghalia, Shevell, Michael I., Srour, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417349/
https://www.ncbi.nlm.nih.gov/pubmed/28503627
http://dx.doi.org/10.1177/2329048X17691396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417349/
https://www.ncbi.nlm.nih.gov/pubmed/28503627
http://dx.doi.org/10.1177/2329048X17691396

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