Nava, Caroline
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. [electronic resource]
- Nature genetics Jun 2014
- 640-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2952 doi
Aicardi Syndrome--genetics
Amino Acid Sequence
Animals
CHO Cells
Child, Preschool
Cohort Studies
Cricetinae
Cricetulus
DNA Mutational Analysis
Female
Humans
Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels--genetics
Infant
Male
Molecular Sequence Data
Mutation, Missense
Patch-Clamp Techniques
Pedigree
Point Mutation
Potassium Channels--genetics
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Spasms, Infantile--genetics