The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy-Reference-Cited by-同舟云学术

The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy

Published:2012-11-20 Issue:2 Volume:55 Page:154-161
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

BRUNKLAUS ANDREAS,DORRIS LIAM,ELLIS RACHAEL,REAVEY ELEANOR,LEE ELIZABETH,FORBES GORDON,APPLETON RICHARD,CROSS J HELEN,FERRIE COLIN,HUGHES IMELDA,JOLLANDS ALICE,KING MARY D,LIVINGSTON JOHN,LYNCH BRYAN,PHILIP SUNNY,SCHEFFER INGRID E,WILLIAMS RUTH,ZUBERI SAMEER M

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/dmcn.12030/fullpdf

Reference23 articles.

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2. So what? Does the test lead to improved health outcomes?;Trevathan;Neurology,2011

3. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2;Escayg;Nat Genet,2000

4. De novo mutations in the sodium channel gene SCN1A causes severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001

5. The spectrum of SCN1A-related infantile epileptic encephalopathies;Harkin;Brain,2007

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