TY - JOUR
T1 - Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
AU - Margherita Mancardi, Maria
AU - Striano, Pasquale
AU - Gennaro, Elena
AU - Madia, Francesca
AU - Paravidino, Roberta
AU - Scapolan, Sara
AU - Dalla Bernardina, Bernardo
AU - Bertini, Enrico
AU - Bianchi, Amedeo
AU - Capovilla, Giuseppe
AU - Darra, Francesca
AU - Elia, Maurizio
AU - Freri, Elena
AU - Gobbi, Giuseppe
AU - Granata, Tiziana
AU - Guerrini, Renzo
AU - Pantaleoni, Chiara
AU - Parmeggiani, Antonia
AU - Romeo, Antonino
AU - Santucci, Margherita
AU - Vecchi, Marilena
AU - Veggiotti, Pierangelo
AU - Vigevano, Federico
AU - Pistorio, Angela
AU - Gaggero, Roberto
AU - Zara, Federico
PY - 2006/10
Y1 - 2006/10
N2 - Purpose: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder. Methods: We analyzed the occurrence of FS and epilepsy among first- and second-degree relatives (N = 867) of 74 SMEI probands with SCN1A mutations (70 de novo, four inherited) and compared data with age-matched and ethnically matched control families. Familial clustering and syndromic concordance within the affected relatives in both groups were investigated. Results: The frequency of FS or epilepsy in relatives of SMEI patients did not significantly differ from that in controls (FS: 13 of 867 vs. 12 of 674, p = 0.66; epilepsy: 15 of 867 vs. six of 674, p = 0.16). Different forms of epilepsy were identified in both relatives of SMEI probands and controls. Twenty-eight relatives with FS and epilepsy were distributed in 20 (27%) of 74 SMEI families; among the controls, 18 affected relatives were clustered in 13 (18.5%) of 70 families. No pedigree showed several affected members, including the four with inherited mutations. Conclusions: A substantial epileptic family background is not present in our SMEI patients with SCN1A mutations. These data do not confirm previous observations and would not support polygenic inheritance in SMEI. The investigation of the family background in additional series of SMEI patients will further shed light on the genetics of this syndrome.
AB - Purpose: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder. Methods: We analyzed the occurrence of FS and epilepsy among first- and second-degree relatives (N = 867) of 74 SMEI probands with SCN1A mutations (70 de novo, four inherited) and compared data with age-matched and ethnically matched control families. Familial clustering and syndromic concordance within the affected relatives in both groups were investigated. Results: The frequency of FS or epilepsy in relatives of SMEI patients did not significantly differ from that in controls (FS: 13 of 867 vs. 12 of 674, p = 0.66; epilepsy: 15 of 867 vs. six of 674, p = 0.16). Different forms of epilepsy were identified in both relatives of SMEI probands and controls. Twenty-eight relatives with FS and epilepsy were distributed in 20 (27%) of 74 SMEI families; among the controls, 18 affected relatives were clustered in 13 (18.5%) of 70 families. No pedigree showed several affected members, including the four with inherited mutations. Conclusions: A substantial epileptic family background is not present in our SMEI patients with SCN1A mutations. These data do not confirm previous observations and would not support polygenic inheritance in SMEI. The investigation of the family background in additional series of SMEI patients will further shed light on the genetics of this syndrome.
KW - Genetics
KW - Severe myoclonic epilepsy of infancy
KW - Voltage-gated sodium channel α subunit type A
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U2 - 10.1111/j.1528-1167.2006.00641.x
DO - 10.1111/j.1528-1167.2006.00641.x
M3 - Article
C2 - 17054684
AN - SCOPUS:33749681862
VL - 47
SP - 1629
EP - 1635
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 10
ER -