Benign Familial Neonatal-Infantile Seizures: Characterization of a New Sodium Channelopathy

Samuel F. Berkovic, Sarah E. Heron, Lucio Giordano, Carla Marini, Renzo Guerrini, Robert E. Kaplan, Antonio Gambardella, Ortrud K. Steinlein, Bronwyn E. Grinton, Joanne T. Dean, Laura Bordo, Bree L. Hodgson, Toshiyuki Yamamoto, John C. Mulley, Federico Zara, Ingrid E. Scheffer

Research output: Contribution to journalArticle

Abstract

We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal-infantile seizures (BFNISs). Here, we aimed to refine the molecular-clinical correlation of SCN2A mutations in early childhood epilepsies. SCN2A was analyzed in 2 families with probable BFNIS, 9 with possible BFNIS, 10 with benign familial infantile seizures, and in 93 additional families with various early childhood epilepsies. Mutations effecting changes in conserved amino acids were found in two of two probable BFNIS families, in four of nine possible BFNIS families, and in none of the others. Our eight families had six different SCN2A mutations; one mutation (R1319Q) occurred in three families. BFNIS is an autosomal dominant disorder presenting between day 2 and 7 months (mean, 11.2 ± 9.2 weeks) with afebrile secondarily generalized partial seizures; neonatal seizures were not seen in all families. The frequency of seizures varied; some individuals had only a few attacks without treatment and others had clusters of many per day. Febrile seizures were rare. All cases remitted by 12 months. Ictal recordings in four subjects showed onset in the posterior quadrants. SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.

Original languageEnglish
Pages (from-to)550-557
Number of pages8
JournalAnnals of Neurology
Volume55
Issue number4
DOIs
Publication statusPublished - Apr 2004

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Benign Familial Neonatal-Infantile Seizures: Characterization of a New Sodium Channelopathy'. Together they form a unique fingerprint.

  • Cite this

    Berkovic, S. F., Heron, S. E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R. E., Gambardella, A., Steinlein, O. K., Grinton, B. E., Dean, J. T., Bordo, L., Hodgson, B. L., Yamamoto, T., Mulley, J. C., Zara, F., & Scheffer, I. E. (2004). Benign Familial Neonatal-Infantile Seizures: Characterization of a New Sodium Channelopathy. Annals of Neurology, 55(4), 550-557. https://doi.org/10.1002/ana.20029