benign familial neonatal convulsions
Also found in: Acronyms, Wikipedia.
KCNQ2 benign neonatal benign familial neonatal seizuresA rare (1:100,000 live births) neonatal condition which is characterised by focal or generalised tonic-clonic seizures involving both sides of the brai, which affects the entire body, causing muscle rigidity, convulsions and loss of consciousness. The seizures usually resolve by the fourth month of life, but some children have residual intellectual disability and myokimia (involuntary rippling of muscles).
Mutations in KCNQ2, less commonly in KCNQ3, both of which encode potassium channel proteins.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
benign familial neonatal convulsionsA rare autosomal dominant disorder due to a gene on the long arm of chromosome 20. The condition features brief CLONIC seizures occurring within a few days or a week or two of birth. Longer-term follow-up, however, suggests that the adjective ‘benign’ might be inappropriate. A number of cases have been described in which STATUS EPILEPTICUS and death have occurred.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005