Convulsions, Benign Familial Infantile, 1

Common Name(s)

Convulsions, Benign Familial Infantile, 1, Benign familial neonatal seizures 1

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; {601764}) by an earlier age at onset. {8:Deprez et al. (2009)} provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal Seizures See also BFNS2 ({121201}), which is caused by mutation in the KCNQ3 gene ({602232}) on chromosome 8q24, and BFNS3 ({608217}), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.
 

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Scientific Literature

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