Journal article

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction

MC Richards, SE Heron, HE Spendlove, IE Scheffer, B Grinton, SF Berkovic, JC Mulley, A Davy

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2004

DOI: 10.1136/jmg.2003.013938

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Keywords

Rat Sympathetic Neurons
Genetic Testing
Mutation
Infant, Newborn, Diseases
Potassium Channels
Expression
Science & Technology
Calmodulin
Identification
Potassium Channel Subunits
Voltage Sensor
Pedigree
Structure-Activity Relationship
Familial Neonatal Convulsions
Male
Protein Binding
Brain
Infant, Newborn
Kcnq2/kcnq3 K+ Channels
Humans
Seizures
Life Sciences & Biomedicine
Kcnq2 Potassium Channel
Female
Dna Mutational Analysis
Specificity
Epilepsy
Two-Hybrid System Techniques
Potassium Channels, Voltage-Gated
Genetics & Heredity