Human pathology

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benign neonatal epilepsy

EBNs, Benign Neonatal Familial Convulsions (BNFC)

Etiology

- benign neonatal epilepsy 1 (EBN1) is caused by mutation in the KCNQ2 gene (MIM.602235).

- benign neonatal epilepsy 2 (EBN2) (MIM.121201) is caused by mutation in the KCNQ3 gene (MIM.602232) on chromosome 8q24.

- Another locus for the disorder has been associated with a pericentric inversion on chromosome 5 (EBN3) (MIM.608217).

- There is also a possible autosomal recessive form. (MIM.269720)