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; Sanjay 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, Sanjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

Eastern Health Clinical School

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

54 Citations (Scopus)

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
Pages (from-to)	e122 - e126
Number of pages	5
Journal	Epilepsia
Volume	54
Issue number	9
DOIs	https://doi.org/10.1111/epi.12323
Publication status	Published - 2013

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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

@article{b0716ab9912642c9a10d741c8da49432,

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

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",

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 Sanjay Sisodiya and Eva Andermann and Sara Kivity and Berkovic, {Samuel F} and Scheffer, {Ingrid E} and Dibbens, {Leanne M}",

year = "2013",

doi = "10.1111/epi.12323",

language = "English",

volume = "54",

pages = "e122 -- e126",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley-Blackwell",

number = "9",

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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

TY - JOUR

T1 - Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

AU - Mulley, John C

AU - Hodgson, Bree

AU - McMahon, Jacinta M

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, Sanjay

AU - Andermann, Eva

AU - Kivity, Sara

AU - Berkovic, Samuel F

AU - Scheffer, Ingrid E

AU - Dibbens, Leanne M

PY - 2013

Y1 - 2013

N2 - 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

AB - 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

UR - http://onlinelibrary.wiley.com/doi/10.1111/epi.12323/pdf

U2 - 10.1111/epi.12323

DO - 10.1111/epi.12323

M3 - Article

VL - 54

SP - e122 - e126

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 9

ER -

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

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