Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

John C. Mulley; Bree Hodgson; Jacinta M. McMahon; Xenia Iona; Susannah Bellows; Saul A. Mullen; Kevin Farrell; Mark Mackay; Lynette Sadleir; Andrew Bleasel; Deepak Gill; Richard Webster; Elaine C. Wirrell; Michael Harbord; Sanyjay Sisodiya; Eva Andermann; Sara Kivity; Samuel F. Berkovic; Ingrid E. Scheffer; Leanne M. Dibbens

doi:10.1111/epi.12323

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

John C. Mulley, Bree Hodgson, Jacinta M. McMahon, Xenia Iona, Susannah Bellows, Saul A. Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine C. Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

Neurology

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

42 Scopus citations

Abstract

Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS⁺) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS⁺ families could be explained by highly penetrant SCN9A mutations.

Original language	English (US)
Pages (from-to)	e122-e126
Journal	Epilepsia
Volume	54
Issue number	9
DOIs	https://doi.org/10.1111/epi.12323
State	Published - Sep 2013

Keywords

Clinical heterogeneity
Dravet syndrome
Febrile seizures
Genetic epilepsy with febrile seizures plus
Genetic modifier
Genetic susceptibility
SCN1A
SCN9A
Susceptibility gene

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1111/epi.12323

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Mulley, J. C., Hodgson, B., McMahon, J. M., Iona, X., Bellows, S., Mullen, S. A., Farrell, K., Mackay, M., Sadleir, L., Bleasel, A., Gill, D., Webster, R., Wirrell, E. C., Harbord, M., Sisodiya, S., Andermann, E., Kivity, S., Berkovic, S. F., Scheffer, I. E., & Dibbens, L. M. (2013). Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia, 54(9), e122-e126. https://doi.org/10.1111/epi.12323

Mulley, JC, Hodgson, B, McMahon, JM, Iona, X, Bellows, S, Mullen, SA, Farrell, K, Mackay, M, Sadleir, L, Bleasel, A, Gill, D, Webster, R, Wirrell, EC, Harbord, M, Sisodiya, S, Andermann, E, Kivity, S, Berkovic, SF, Scheffer, IE & Dibbens, LM 2013, 'Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome', Epilepsia, vol. 54, no. 9, pp. e122-e126. https://doi.org/10.1111/epi.12323

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abstract = "Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations.",

keywords = "Clinical heterogeneity, Dravet syndrome, Febrile seizures, Genetic epilepsy with febrile seizures plus, Genetic modifier, Genetic susceptibility, SCN1A, SCN9A, Susceptibility gene",

author = "Mulley, {John C.} and Bree Hodgson and McMahon, {Jacinta M.} and Xenia Iona and Susannah Bellows and Mullen, {Saul A.} and Kevin Farrell and Mark Mackay and Lynette Sadleir and Andrew Bleasel and Deepak Gill and Richard Webster and Wirrell, {Elaine C.} and Michael Harbord and Sanyjay Sisodiya and Eva Andermann and Sara Kivity and Berkovic, {Samuel F.} and Scheffer, {Ingrid E.} and Dibbens, {Leanne M.}",

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AU - Iona, Xenia

AU - Bellows, Susannah

AU - Mullen, Saul A.

AU - Farrell, Kevin

AU - Mackay, Mark

AU - Sadleir, Lynette

AU - Bleasel, Andrew

AU - Gill, Deepak

AU - Webster, Richard

AU - Wirrell, Elaine C.

AU - Harbord, Michael

AU - Sisodiya, Sanyjay

AU - Andermann, Eva

AU - Kivity, Sara

AU - Berkovic, Samuel F.

AU - Scheffer, Ingrid E.

AU - Dibbens, Leanne M.

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KW - Dravet syndrome

KW - Febrile seizures

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Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

Abstract

Keywords

ASJC Scopus subject areas

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