A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.
Mulley
J C
JC
Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, 5006 Australia. john.mulley@cywhs.sa.gov.au
Nelson
P
P
Guerrero
S
S
Dibbens
L
L
Iona
X
X
McMahon
J M
JM
Harkin
L
L
Schouten
J
J
Yu
S
S
Berkovic
S F
SF
Scheffer
I E
IE
D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels