Kwong, Anna Ka-Yee
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [electronic resource]
- PloS one 2012
- e41802 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1932-6203
10.1371/journal.pone.0041802 doi
Adolescent
Amino Acid Sequence
Animals
Asian People--genetics
Base Sequence
Cadherins--chemistry
Child
Child, Preschool
DNA Mutational Analysis
Epilepsies, Myoclonic--complications
Female
Humans
Infant
Intellectual Disability--complications
Male
Mutation
Mutation, Missense--genetics
NAV1.1 Voltage-Gated Sodium Channel--chemistry
Nuclear Proteins--chemistry
Phenotype
Polymorphism, Genetic--genetics
Protocadherins
RNA Splice Sites--genetics