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

J Med Genet. 2004 Mar;41(3):e35. doi: 10.1136/jmg.2003.013938.

Authors

M C Richards¹, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy

Affiliation

¹ Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Calmodulin / genetics
Calmodulin / metabolism*
DNA Mutational Analysis
Epilepsy / genetics*
Epilepsy / physiopathology*
Female
Genetic Testing
Humans
Infant, Newborn
Infant, Newborn, Diseases / genetics
KCNQ2 Potassium Channel
Male
Mutation / genetics*
Pedigree
Potassium Channels / chemistry
Potassium Channels / genetics*
Potassium Channels / metabolism*
Potassium Channels, Voltage-Gated
Protein Binding
Seizures / genetics
Structure-Activity Relationship
Two-Hybrid System Techniques

Substances

Calmodulin
KCNQ2 Potassium Channel
KCNQ2 protein, human
Potassium Channels
Potassium Channels, Voltage-Gated

Associated data

OMIM/121200
OMIM/602232
OMIM/602235