A Novel Splicing Mutation in <i>KCNQ2</i> in a Multigenerational Family with BFNC Followed for 25 Years - Concepedia

Concepedia

Publication | Open Access

A Novel Splicing Mutation in <i>KCNQ2</i> in a Multigenerational Family with BFNC Followed for 25 Years

DOI Full Paper Access

37

Citations

45

References

2006

Year

Gerrit‐Jan de Haan, Dalila Pinto, D. Carton, Adri J. Bader, Jorien Witte, Edith Peters, Gerard van Erp, Willem Vandereyken, Eduard H. Boezeman, Martin C. Wapenaar,

Abstract

We detected and characterized a novel splicing mutation in the brain-specific KCNQ2 gene by using easily accessible blood leukocytes. Aberrant splicing cosegregates with BFNC but not with photosensitivity.

References

	Year	Citations

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