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Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy
Author(s) -
Berkovic Samuel F.,
Heron Sarah E.,
Giordano Lucio,
Marini Carla,
Guerrini Renzo,
Kaplan Robert E.,
Gambardella Antonio,
Steinlein Ortrud K.,
Grinton Bronwyn E.,
Dean Joanne T.,
Bordo Laura,
Hodgson Bree L.,
Yamamoto Toshiyuki,
Mulley John C.,
Zara Federico,
Scheffer Ingrid E.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20029
Subject(s) - channelopathy , medicine , pediatrics , epilepsy , mutation , family history , ictal , genetics , gene , biology , psychiatry
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. Ann Neurol 2004