Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures()

Benign familial neonatal seizures (BFNS) is an autosomal dominant disorder associated with heterozygous mutations of either the KCNQ2 or KCNQ3 gene. Most cases have mutations of the KCNQ2 gene. A handful of cases with KCNQ2 and CHRNA4 deletions have been identified with different phenotypic presenta...

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Detalles Bibliográficos
Autores principales: Pascual, Franchette T., Wierenga, Klaas J., Ng, Yu-Tze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150641/
https://www.ncbi.nlm.nih.gov/pubmed/25667822
http://dx.doi.org/10.1016/j.ebcr.2013.01.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150641/
https://www.ncbi.nlm.nih.gov/pubmed/25667822
http://dx.doi.org/10.1016/j.ebcr.2013.01.004

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