Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

Kwong, Anna Ka-Yee

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. [electronic resource] - PloS one 2015 - e0126446 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1932-6203

10.1371/journal.pone.0126446 doi


Amino Acid Sequence
Animals
Child
Child, Preschool
Cohort Studies
Genetic Predisposition to Disease
Humans
Infant
Molecular Sequence Data
Neurons--physiology
Point Mutation
Sequence Homology, Amino Acid
Spasms, Infantile--genetics
Synaptic Transmission--genetics