Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion

Hum Genet. 2005 Jul;117(2-3):300.

Authors

D Pinto¹, G-J de Haan, D Carton, A Bader, J Witte, E Peters, M G van Erp, W Vandereyken, E H J F Boezeman, P Boon, D J J Halley, B P C Koeleman, D Lindhout

Affiliation

¹ Complex Genetics Group, DBG-Dept. of Medical Genetics, University Medical Centre Utrecht, Stratenum 2.112, PO Box 85060, 3508 AB Utrecht, The Netherlands. [email protected]

PMID: 16156031

No abstract available

MeSH terms

Epilepsy, Benign Neonatal / genetics*
Humans
Introns / genetics*
KCNQ2 Potassium Channel
Point Mutation*
RNA Splice Sites / genetics*
RNA Splicing / genetics*

Substances

KCNQ2 Potassium Channel
KCNQ2 protein, human
RNA Splice Sites