Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus

R. H. Wallace; I. E. Scheffer; S. Barnett; M. Richards; L. Dibbens; R. R. Desai; T. Lerman-Sagie; D. Lev; A. Mazarib; N. Brand; B. Ben-Zeev; I. Goikhman; R. Singh; G. Kremmidiotis; A. Gardner; G. R. Sutherland; A. L. George; J. C. Mulley; S. F. Berkovic

doi:10.1086/319516

Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus

R. H. Wallace, I. E. Scheffer, S. Barnett, M. Richards, L. Dibbens, R. R. Desai, T. Lerman-Sagie, D. Lev, A. Mazarib, N. Brand, B. Ben-Zeev, I. Goikhman, R. Singh, G. Kremmidiotis, A. Gardner, G. R. Sutherland, A. L. George, J. C. Mulley, S. F. Berkovic

Pharmacology

Research output: Contribution to journal › Article › peer-review

294 Scopus citations

Abstract

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel β1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel α1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations- D188V, V1353L, and I1656M- were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.

Original language	English (US)
Pages (from-to)	859-865
Number of pages	7
Journal	American journal of human genetics
Volume	68
Issue number	4
DOIs	https://doi.org/10.1086/319516
State	Published - 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Wallace, R. H., Scheffer, I. E., Barnett, S., Richards, M., Dibbens, L., Desai, R. R., Lerman-Sagie, T., Lev, D., Mazarib, A., Brand, N., Ben-Zeev, B., Goikhman, I., Singh, R., Kremmidiotis, G., Gardner, A., Sutherland, G. R., George, A. L., Mulley, J. C., & Berkovic, S. F. (2001). Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus. American journal of human genetics, 68(4), 859-865. https://doi.org/10.1086/319516

Wallace, R. H. ; Scheffer, I. E. ; Barnett, S. ; Richards, M. ; Dibbens, L. ; Desai, R. R. ; Lerman-Sagie, T. ; Lev, D. ; Mazarib, A. ; Brand, N. ; Ben-Zeev, B. ; Goikhman, I. ; Singh, R. ; Kremmidiotis, G. ; Gardner, A. ; Sutherland, G. R. ; George, A. L. ; Mulley, J. C. ; Berkovic, S. F. / Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus. In: American journal of human genetics. 2001 ; Vol. 68, No. 4. pp. 859-865.

@article{a2e31bcc841f4ec8b10f2915d4ac80a7,

title = "Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus",

abstract = "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel β1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel α1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations- D188V, V1353L, and I1656M- were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.",

author = "Wallace, {R. H.} and Scheffer, {I. E.} and S. Barnett and M. Richards and L. Dibbens and Desai, {R. R.} and T. Lerman-Sagie and D. Lev and A. Mazarib and N. Brand and B. Ben-Zeev and I. Goikhman and R. Singh and G. Kremmidiotis and A. Gardner and Sutherland, {G. R.} and George, {A. L.} and Mulley, {J. C.} and Berkovic, {S. F.}",

year = "2001",

doi = "10.1086/319516",

language = "English (US)",

volume = "68",

pages = "859--865",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

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Wallace, RH, Scheffer, IE, Barnett, S, Richards, M, Dibbens, L, Desai, RR, Lerman-Sagie, T, Lev, D, Mazarib, A, Brand, N, Ben-Zeev, B, Goikhman, I, Singh, R, Kremmidiotis, G, Gardner, A, Sutherland, GR, George, AL, Mulley, JC & Berkovic, SF 2001, 'Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus', American journal of human genetics, vol. 68, no. 4, pp. 859-865. https://doi.org/10.1086/319516

Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus. / Wallace, R. H.; Scheffer, I. E.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R. R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G. R.; George, A. L.; Mulley, J. C.; Berkovic, S. F.

In: American journal of human genetics, Vol. 68, No. 4, 2001, p. 859-865.

Research output: Contribution to journal › Article › peer-review

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T1 - Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus

AU - Wallace, R. H.

AU - Scheffer, I. E.

AU - Barnett, S.

AU - Richards, M.

AU - Dibbens, L.

AU - Desai, R. R.

AU - Lerman-Sagie, T.

AU - Lev, D.

AU - Mazarib, A.

AU - Brand, N.

AU - Ben-Zeev, B.

AU - Goikhman, I.

AU - Singh, R.

AU - Kremmidiotis, G.

AU - Gardner, A.

AU - Sutherland, G. R.

AU - George, A. L.

AU - Mulley, J. C.

AU - Berkovic, S. F.

PY - 2001

Y1 - 2001

N2 - Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel β1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel α1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations- D188V, V1353L, and I1656M- were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.

AB - Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel β1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel α1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations- D188V, V1353L, and I1656M- were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.

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Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus

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