Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy

Erin J. McArdle; Jennifer D. Kunic; Alfred L. George

doi:10.1002/ajmg.a.32448

Novel SCN1A frameshift mutation with absence of truncated Na_v1.1 protein in severe myoclonic epilepsy of infancy

Erin J. McArdle, Jennifer D. Kunic, Alfred L. George

Pharmacology

Research output: Contribution to journal › Letter › peer-review

6 Scopus citations

Original language	English (US)
Pages (from-to)	2421-2423
Number of pages	3
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	18
DOIs	https://doi.org/10.1002/ajmg.a.32448
State	Published - Sep 15 2008

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.32448

Cite this

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title = "Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy",

author = "McArdle, {Erin J.} and Kunic, {Jennifer D.} and George, {Alfred L.}",

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AU - McArdle, Erin J.

AU - Kunic, Jennifer D.

AU - George, Alfred L.

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IS - 18

ER -

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy

ASJC Scopus subject areas

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Novel SCN1A frameshift mutation with absence of truncated Na_v1.1 protein in severe myoclonic epilepsy of infancy