Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

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 mu...

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Published in:Epilepsia (Copenhagen) 2006-10, Vol.47 (10), p.1629-1635
Main Authors: Margherita Mancardi, Maria, Striano, Pasquale, Gennaro, Elena, Madia, Francesca, Paravidino, Roberta, Scapolan, Sara, Dalla Bernardina, Bernardo, Bertini, Enrico, Bianchi, Amedeo, Capovilla, Giuseppe, Darra, Francesca, Elia, Maurizio, Freri, Elena, Gobbi, Giuseppe, Granata, Tiziana, Guerrini, Renzo, Pantaleoni, Chiara, Parmeggiani, Antonia, Romeo, Antonino, Santucci, Margherita, Vecchi, Marilena, Veggiotti, Pierangelo, Vigevano, Federico, Pistorio, Angela, Gaggero, Roberto, Zara, Federico
Format: Article
Language:English
Subjects:
Anticonvulsants. Antiepileptics. Antiparkinson agents
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Epilepsies, Myoclonic - epidemiology
Epilepsies, Myoclonic - genetics
Epilepsy - epidemiology
Epilepsy - genetics
Family
Genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Medical sciences
Mutation - genetics
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - genetics
Nervous system (semeiology, syndromes)
Neurology
Neuropharmacology
Pedigree
Pharmacology. Drug treatments
Seizures, Febrile - epidemiology
Seizures, Febrile - genetics
Severe myoclonic epilepsy of infancy
Sodium Channels - genetics
Voltage‐gated sodium channel α subunit type A
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Summary: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.
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1167.2006.00641.x