Benign familial neonatal seizures

Benign familial neonatal epilepsy[1]
Other namesBenign familial neonatal convulsions
SpecialtyNeurology Edit this on Wikidata

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.

  1. ^ Berg AT, Berkovic SF, Brodie MJ, et al. (April 2010). "Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009". Epilepsia. 51 (4): 676–85. doi:10.1111/j.1528-1167.2010.02522.x. PMID 20196795.
  2. ^ a b Kannan, Varun; Pareek, Aishwarya V.; Das, Abhijit R.; Gay, Charles T.; Riviello, James J. (September 2023). ""Fifth-day fits" revisited: A literature review of benign idiopathic neonatal seizures and comparison with KCNQ2- and KCNQ3-associated benign familial epilepsy syndromes". Annals of the Child Neurology Society. 1 (3): 202–208. doi:10.1002/cns3.20039. ISSN 2831-3267.
  3. ^ a b Pisani, Francesco; Spagnoli, Carlotta; Falsaperla, Raffaele; Nagarajan, Lakshmi; Ramantani, Georgia (2021-02-01). "Seizures in the neonate: A review of etiologies and outcomes". Seizure. 85: 48–56. doi:10.1016/j.seizure.2020.12.023. hdl:11573/1670082. ISSN 1059-1311.
  4. ^ Panayiotopoulos, C. P. (2005), "Neonatal Seizures and Neonatal Syndromes", The Epilepsies: Seizures, Syndromes and Management, Bladon Medical Publishing, retrieved 2023-11-30