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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Bibliographic Details
Main Authors: Pascual, Franchette T., Wierenga, Klaas J., Ng, Yu-Tze
Format: Artigo
Language:Inglês
Published: Elsevier 2013
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4150641/
https://ncbi.nlm.nih.gov/pubmed/25667822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebcr.2013.01.004
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