benign familial neonatal convulsions

KCNQ2 benign neonatal benign familial neonatal seizures

A 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).

Molecular pathology
Mutations in KCNQ2, less commonly in KCNQ3, both of which encode potassium channel proteins.

benign familial neonatal convulsions

A 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.

单词	benign familial neonatal convulsions
释义	benign familial neonatal convulsions KCNQ2 benign neonatal benign familial neonatal seizures A 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). Molecular pathology Mutations in KCNQ2, less commonly in KCNQ3, both of which encode potassium channel proteins. benign familial neonatal convulsions A 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. AcronymsSeeBFNC
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