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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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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013
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| Assuntos: | |
| Acesso em linha: | 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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