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Title: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Austin Authors: 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 
Affiliation: Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia
Issue Date: 1-Apr-2004
Publication information: Annals of Neurology; 55(4): 550-7
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.
Gov't Doc #: 15048894
DOI: 10.1002/ana.20029
Type: Journal Article
Subjects: Adolescent
Child, Preschool
DNA Mutational Analysis
Epilepsy, Benign Neonatal.genetics.pathology.physiopathology
Middle Aged
Mutation, Missense
NAV1.2 Voltage-Gated Sodium Channel
Nerve Tissue Proteins.chemistry.genetics
Sodium Channels.chemistry.genetics
Appears in Collections:Journal articles

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