Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Richards
M C
MC
Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Heron
S E
SE
Spendlove
H E
HE
Scheffer
I E
IE
Grinton
B
B
Berkovic
S F
SF
Mulley
J C
JC
Davy
A
A
D002147:Calmodulin / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics; D051658:KCNQ2 Potassium Channel; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D024642:Potassium Channels, Voltage-Gated; D011485:Protein Binding; D012640:Seizures / Q000235:genetics; D013329:Structure-Activity Relationship; D020798:Two-Hybrid System Techniques
D002147:Calmodulin; D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated