Elsevier

The Lancet

Volume 360, Issue 9336, 14 September 2002, Pages 851-852
The Lancet

Research Letters
Sodium-channel defects in benign familial neonatal-infantile seizures

https://doi.org/10.1016/S0140-6736(02)09968-3Get rights and content

Summary

Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.

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    Citation Excerpt :

    The duplication of this fragment in the fetus may be due to chimeric mutations in the germ cells of her mother. Mutaions in SCN2A are thought to be associated with benign familial neonatal-infantile seizure (BFNIS), Dravet syndrome (DS), genetic epilepsy with febrile seizure plus (GEFS+), and early onset epileptic encephalopathies (EOEE).17–20 Mutations in SCN3A have also been detected in patients with epilepsy,21,22 albeit less frequently.

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