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