| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the Departments of Neurology (Drs. Abou-Khalil and Ge), Medicine (Dr. George and B. Desai), and Molecular Physiology & Biophysics (R. Ryther, A. Bazyk, and Drs. Bailey, Haines, and Sutcliffe), Vanderbilt University School of Medicine, Nashville, TN.
Address correspondence and reprint requests to Dr. Bassel Abou-Khalil, Department of Neurology, Vanderbilt University, MCS Room 336, 2100 Pierce Avenue, Nashville, TN 37212; e-mail: Bassel.Abou-Khalil{at}mcmail.vanderbilt.edu
Background: Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant syndrome characterized by febrile seizures (FS) and a variety of afebrile generalized seizure types. GEFS+ has previously been linked to mutations in two genes encoding the voltage-gated sodium channel 
-subunit (SCN1A) and ß1-subunit (SCN1B). We studied a large family with FS and partial as well as generalized seizure types.
Methods: All but two living affected family members were interviewed and examined. Information on deceased affected family members was sought. EEG for 11 affected family members and one unaffected family member were obtained. Genetic linkage analysis and mutation screening of SCN1A were performed on blood samples from 16 affected individuals and their first-degree relatives.
Results: There were 27 affected family members; 18 were alive at the time of the study. All affected family members had FS; seven had FS only, and 19 also had afebrile seizures. Eleven individuals continued to have FS beyond 6 years of age. FS were complex in 12 family members, usually with prolonged duration. The index patient had right temporal lobe epilepsy and hippocampal sclerosis. Four other patients had strong historical evidence of temporal lobe epilepsy, and three others had nonlocalizing evidence of partial epilepsy. Pedigree analysis indicated autosomal dominant transmission. All affected individuals who were tested and one asymptomatic individual had a sodium channel mutation of SCN1A, an A
C transversion at nucleotide 3809 resulting in the substitution of lysine 1270 by threonine in the D3/S2 segment (designated as K1270T).
Conclusions: Our findings indicate that partial epilepsy preceded by FS can be associated with sodium channel mutations and may represent a variant of GEFS+.
This article has been cited by other articles:
|
|
 |
|
  J. H. Livingston, J. H. Cross, A. Mclellan, R. Birch, and S. M. Zuberi A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus J Child Neurol, April 1, 2009; 24(4): 503 - 508. [Abstract] [PDF]
|
|
|
|
 |
|
 I. Taylor, S. F. Berkovic, S. Kivity, and I. E. Scheffer Benign occipital epilepsies of childhood: clinical features and genetics Brain, September 1, 2008; 131(9): 2287 - 2294. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Baulac, I. Gourfinkel-An, P. Couarch, C. Depienne, A. Kaminska, O. Dulac, M. Baulac, E. LeGuern, and R. Nabbout A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French Families Arch Neurol, July 1, 2008; 65(7): 943 - 951. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. D. Holland and J. Buchhalter Hemiconvulsion-hemiplegia-epilepsy syndrome: Another case for epilepsy surgery Neurology, May 27, 2008; 70(22_Part_2): 2097 - 2098. [Full Text] [PDF]
|
|
|
|
|
|
C. Zucca, F. Redaelli, R. Epifanio, N. Zanotta, A. Romeo, M. Lodi, P. Veggiotti, G. Airoldi, C. Panzeri, R. Romaniello, et al. Cryptogenic Epileptic Syndromes Related to SCN1A: Twelve Novel Mutations Identified Arch Neurol, April 1, 2008; 65(4): 489 - 494. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Grosso, A. Orrico, L. Galli, R. Di Bartolo, V. Sorrentino, and P. Balestri SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME Neurology, August 7, 2007; 69(6): 609 - 611. [Full Text] [PDF]
|
|
|
|
 |
|
 J. R. Skinner, S.-K. Chung, C.-A. Nel, A. N. Shelling, J. R. Crawford, N. McKenzie, R. Pinnock, J. K. French, and M. I. Rees Brugada Syndrome Masquerading as Febrile Seizures Pediatrics, May 1, 2007; 119(5): e1206 - e1211. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. E. Scheffer, L. A. Harkin, B. E. Grinton, L. M. Dibbens, S. J. Turner, M. A. Zielinski, R. Xu, G. Jackson, J. Adams, M. Connellan, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations Brain, January 1, 2007; 130(1): 100 - 109. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. J. Barela, S. P. Waddy, J. G. Lickfett, J. Hunter, A. Anido, S. L. Helmers, A. L. Goldin, and A. Escayg An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. J. Neurosci., March 8, 2006; 26(10): 2714 - 2723. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. H. Rhodes, C. G. Vanoye, I. Ohmori, I. Ogiwara, K. Yamakawa, and A. L. George Jr Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures J. Physiol., December 1, 2005; 569(2): 433 - 445. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. C. Kiernan, A. V. Krishnan, C. S.-Y. Lin, D. Burke, and S. F. Berkovic Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability Brain, August 1, 2005; 128(8): 1841 - 1846. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. L. Cavalleri, J. M. Lynch, C. Depondt, M.-W. Burley, N. W. Wood, S. M. Sisodiya, and D. B. Goldstein Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? Brain, August 1, 2005; 128(8): 1832 - 1840. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Spampanato, J. A. Kearney, G. de Haan, D. P. McEwen, A. Escayg, I. Aradi, B. T. MacDonald, S. I. Levin, I. Soltesz, P. Benna, et al. A Novel Epilepsy Mutation in the Sodium Channel SCN1A Identifies a Cytoplasmic Domain for {beta} Subunit Interaction J. Neurosci., November 3, 2004; 24(44): 10022 - 10034. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L Claes, D Audenaert, L Deprez, W Van Paesschen, C Depondt, D Goossens, J Del-Favero, C Van Broeckhoven, and P De Jonghe Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures J. Med. Genet., September 1, 2004; 41(9): 710 - 714. [Full Text] [PDF]
|
|
|
|
|
|
K. Kanai, S. Hirose, H. Oguni, G. Fukuma, Y. Shirasaka, T. Miyajima, K. Wada, H. Iwasa, S. Yasumoto, M. Matsuo, et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity Neurology, July 27, 2004; 63(2): 329 - 334. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. H. Rhodes, C. Lossin, C. G. Vanoye, D. W. Wang, and A. L. George Jr. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy PNAS, July 27, 2004; 101(30): 11147 - 11152. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Spampanato, I. Aradi, I. Soltesz, and A. L. Goldin Increased Neuronal Firing in Computer Simulations of Sodium Channel Mutations That Cause Generalized Epilepsy With Febrile Seizures Plus J Neurophysiol, May 1, 2004; 91(5): 2040 - 2050. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. L. George Jr Molecular Basis of Inherited Epilepsy Arch Neurol, April 1, 2004; 61(4): 473 - 478. [Full Text] [PDF]
|
|
|
|
|
|
C. Lossin, T. H. Rhodes, R. R. Desai, C. G. Vanoye, D. Wang, S. Carniciu, O. Devinsky, and A. L. George Jr Epilepsy-Associated Dysfunction in the Voltage-Gated Neuronal Sodium Channel SCN1A J. Neurosci., December 10, 2003; 23(36): 11289 - 11295. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L Vadlamudi, I E Scheffer, and S F Berkovic Genetics of temporal lobe epilepsy J. Neurol. Neurosurg. Psychiatry, October 1, 2003; 74(10): 1359 - 1361. [Full Text] [PDF]
|
|
|
|
|
|
R. H. Wallace, B. L. Hodgson, B. E. Grinton, R. M. Gardiner, R. Robinson, V. Rodriguez-Casero, L. Sadleir, J. Morgan, L. A. Harkin, L. M. Dibbens, et al. Sodium channel {alpha}1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms Neurology, September 23, 2003; 61(6): 765 - 769. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Nabbout, E. Gennaro, B. Dalla Bernardina, O. Dulac, F. Madia, E. Bertini, G. Capovilla, C. Chiron, G. Cristofori, M. Elia, et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology, June 24, 2003; 60(12): 1961 - 1967. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. S. Meadows, J. Malhotra, A. Loukas, V. Thyagarajan, K. A. Kazen-Gillespie, M. C. Koopman, S. Kriegler, L. L. Isom, and D. S. Ragsdale Functional and Biochemical Analysis of a Sodium Channel beta 1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1 J. Neurosci., December 15, 2002; 22(24): 10699 - 10709. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
