Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families-Reference-Cited by-同舟云学术

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

Published:2015-07 Issue:4 Volume:19 Page:484-488
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Brunklaus Andreas,Ellis Rachael,Stewart Helen,Aylett Sarah,Reavey Eleanor,Jefferson Ros,Jain Rakesh,Chakraborty Supratik,Jayawant Sandeep,Zuberi Sameer M.

Funder

Epilepsy Research UK

Dravet Syndrome UK

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. Severe myoclonic epilepsy in infancy (Dravet syndrome);Dravet,2005

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

3. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome;Brunklaus;Brain,2012

4. Genotype-phenotype associations in SCN1A related epilepsies;Zuberi;Neurology,2011

5. Amino acid difference formula to help explain protein evolution;Grantham;Science,1974

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