Sodium-channel defects in benign familial neonatal-infantile seizures.
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.
Heron
Sarah E
SE
Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sheron@bionomics.com.au
Crossland
Kathryn M
KM
Andermann
Eva
E
Phillips
Hilary A
HA
Hall
Allison J
AJ
Bleasel
Andrew
A
Shevell
Michael
M
Mercho
Suha
S
Seni
Marie-Helene
MH
Guiot
Marie-Christine
MC
Mulley
John C
JC
Berkovic
Samuel F
SF
Scheffer
Ingrid E
IE
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001315:Australia; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D015222:Sodium Channels / Q000235:genetics*
D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels