De novo R853Q mutation of SCN2A gene and West syndrome

Acta Neurol Belg. 2015 Dec;115(4):773-6. doi: 10.1007/s13760-015-0454-8. Epub 2015 Mar 15.

Authors

Debopam Samanta¹, Raghu Ramakrishnaiah²

Affiliations

¹ Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA. dsamanta@uams.edu.
² Division of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

PMID: 25772804
DOI: 10.1007/s13760-015-0454-8

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Arginine / genetics
Glutamine / genetics
Humans
Infant
Male
Mutation / genetics*
NAV1.2 Voltage-Gated Sodium Channel / genetics*
Spasms, Infantile / genetics*

Substances

NAV1.2 Voltage-Gated Sodium Channel
SCN2A protein, human
Glutamine
Arginine