Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
AUTOR(ES)
Heron, S E
FONTE
BMJ Group
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2652819Documentos Relacionados
- Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel
- Benign unilateral seizures or epilepsy.
- Calmodulin Activation Limits the Rate of KCNQ2 K+ Channel Exit from the Endoplasmic Reticulum*
- Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
- Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas