Lack of SCN1A mutations in familial febrile seizures

Michela Malacarne; Francesca Madia; Elena Gennaro; Daniela Vacca; A. Ilter Güney; Salvatore Buono; Bernardo Dalla Bernardina; Roberto Gaggero; Giuseppe Gobbi; Maria Luisa Lispi; Daniela Malamaci; Giustino Melideo; Maurizio Roccella; Caterina Sferro; Alessandra Tiberti; Francesca Vanadia; Federico Vigevano; Franco Viri; Maria Rosa Vitali; Franca Dagna Bricarelli; Amedeo Bianchi; Federico Zara

doi:10.1046/j.1528-1157.2002.29301.x

Lack of SCN1A mutations in familial febrile seizures

Michela Malacarne, Francesca Madia, Elena Gennaro, Daniela Vacca, A. Ilter Güney, Salvatore Buono, Bernardo Dalla Bernardina, Roberto Gaggero, Giuseppe Gobbi, Maria Luisa Lispi, Daniela Malamaci, Giustino Melideo, Maurizio Roccella, Caterina Sferro, Alessandra Tiberti, Francesca Vanadia, Federico Vigevano, Franco Viri, Maria Rosa Vitali, Franca Dagna BricarelliAmedeo Bianchi, Federico Zara

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

Abstract

Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS ⁺) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.

Original language	English
Pages (from-to)	559-562
Number of pages	4
Journal	Epilepsia
Volume	43
Issue number	5
DOIs	https://doi.org/10.1046/j.1528-1157.2002.29301.x
Publication status	Published - 2002

Keywords

Febrile convulsions
Genetics
Idiopathic epilepsy
Ion channels
Mutations

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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Malacarne, M., Madia, F., Gennaro, E., Vacca, D., Güney, A. I., Buono, S., Bernardina, B. D., Gaggero, R., Gobbi, G., Lispi, M. L., Malamaci, D., Melideo, G., Roccella, M., Sferro, C., Tiberti, A., Vanadia, F., Vigevano, F., Viri, F., Vitali, M. R., ... Zara, F. (2002). Lack of SCN1A mutations in familial febrile seizures. Epilepsia, 43(5), 559-562. https://doi.org/10.1046/j.1528-1157.2002.29301.x

Lack of SCN1A mutations in familial febrile seizures. / Malacarne, Michela; Madia, Francesca; Gennaro, Elena; Vacca, Daniela; Güney, A. Ilter; Buono, Salvatore; Bernardina, Bernardo Dalla; Gaggero, Roberto; Gobbi, Giuseppe; Lispi, Maria Luisa; Malamaci, Daniela; Melideo, Giustino; Roccella, Maurizio; Sferro, Caterina; Tiberti, Alessandra; Vanadia, Francesca; Vigevano, Federico; Viri, Franco; Vitali, Maria Rosa; Bricarelli, Franca Dagna; Bianchi, Amedeo; Zara, Federico.

In: Epilepsia, Vol. 43, No. 5, 2002, p. 559-562.

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

Malacarne, M, Madia, F, Gennaro, E, Vacca, D, Güney, AI, Buono, S, Bernardina, BD, Gaggero, R, Gobbi, G, Lispi, ML, Malamaci, D, Melideo, G, Roccella, M, Sferro, C, Tiberti, A, Vanadia, F, Vigevano, F, Viri, F, Vitali, MR, Bricarelli, FD, Bianchi, A & Zara, F 2002, 'Lack of SCN1A mutations in familial febrile seizures', Epilepsia, vol. 43, no. 5, pp. 559-562. https://doi.org/10.1046/j.1528-1157.2002.29301.x

Malacarne, Michela ; Madia, Francesca ; Gennaro, Elena ; Vacca, Daniela ; Güney, A. Ilter ; Buono, Salvatore ; Bernardina, Bernardo Dalla ; Gaggero, Roberto ; Gobbi, Giuseppe ; Lispi, Maria Luisa ; Malamaci, Daniela ; Melideo, Giustino ; Roccella, Maurizio ; Sferro, Caterina ; Tiberti, Alessandra ; Vanadia, Francesca ; Vigevano, Federico ; Viri, Franco ; Vitali, Maria Rosa ; Bricarelli, Franca Dagna ; Bianchi, Amedeo ; Zara, Federico. / Lack of SCN1A mutations in familial febrile seizures. In: Epilepsia. 2002 ; Vol. 43, No. 5. pp. 559-562.

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abstract = "Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS +) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.",

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AU - Malacarne, Michela

AU - Madia, Francesca

AU - Gennaro, Elena

AU - Vacca, Daniela

AU - Güney, A. Ilter

AU - Buono, Salvatore

AU - Bernardina, Bernardo Dalla

AU - Gaggero, Roberto

AU - Gobbi, Giuseppe

AU - Lispi, Maria Luisa

AU - Malamaci, Daniela

AU - Melideo, Giustino

AU - Roccella, Maurizio

AU - Sferro, Caterina

AU - Tiberti, Alessandra

AU - Vanadia, Francesca

AU - Vigevano, Federico

AU - Viri, Franco

AU - Vitali, Maria Rosa

AU - Bricarelli, Franca Dagna

AU - Bianchi, Amedeo

AU - Zara, Federico

PY - 2002

Y1 - 2002

N2 - Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS +) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.

AB - Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS +) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.

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KW - Genetics

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KW - Ion channels

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