benign familial neonatal convulsions
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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.