Benign familial neonatal epilepsy[1] | |
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Other names | Benign familial neonatal convulsions |
Specialty | Neurology |
Benign familial neonatal seizures (BFNS), also referred to as benign familial neonatal epilepsy (BFNE), is a rare autosomal dominant inherited form of seizures. This condition manifests in newborns as brief and frequent episodes of tonic-clonic seizures with asymptomatic periods in between.[2] Characteristically, seizure activity spontaneously ends during infancy and does not affect childhood development.[2][3] However, some studies have reported that a minority of children with BFNS consequently develop intellectual disability.[3] Additionally, BFNS increases lifetime susceptibility to seizures as approximately 14% of those afflicted go on to develop epilepsy later in life.[4] There are three known genetic causes of BFNE, two being the voltage-gated potassium channels KCNQ2 (BFNC1) and KCNQ3 (BFNC2) and the third being a chromosomal inversion (BFNC3). There is no obvious correlation between most of the known mutations and clinical variability seen in BFNE.