A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. [electronic resource]
Producer: 20041221Description: 57-65 p. digitalISSN:- 1526-632X
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Anticonvulsants -- pharmacology
- CHO Cells
- Cricetinae
- Cricetulus
- Drug Resistance -- genetics
- Epilepsies, Partial -- drug therapy
- Epilepsy, Benign Neonatal -- drug therapy
- Female
- Humans
- Infant, Newborn
- Intellectual Disability -- genetics
- Ion Channel Gating
- Ion Transport
- KCNQ2 Potassium Channel
- Magnetic Resonance Imaging
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Point Mutation
- Potassium Channels, Voltage-Gated -- chemistry
- Protein Conformation
- Protein Subunits
- Quadriplegia -- genetics
- Structure-Activity Relationship
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.