X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne Dibbens; Patrick Tarpey; Kim Hynes; Marta Bayly; Ingrid Scheffer; Raffaella Smith; Jamee Bomar; Edwina Sutton; Lucianne Vandeleur; Cheryl Shoubridge; Sarah Edkins; Samantha Turner; Claire Stevens; Sarah O'Meara; Calli Tofts; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kelly Halliday; David Jones; Rebecca Lee; Mark Madison; Tatiana Mironenko; Jennifer Varian; Sophie West; Sara Widaa; Paul Wray; John Teague; Ed Dicks; Adam Butler; Andrew Menzies; Andrew Jenkinson; Rebecca Shepherd; James Gusella; Zaid Afawi; Aziz Mazarib; Miriam Neufeld; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Amos Korczyn; Christopher Derry; Grant Sutherland; Kathyrn Friend; Marie Shaw; Mark Corbett; Hyung-Goo Kim; Daniel Geschwind; Paul Thomas; Eric Haan; Stephen Ryan; Shane McKee; Samuel Berkovic; P Futreal; Michael Stratton; John Mulley; Jozef Gecz

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne Dibbens, Patrick Tarpey, Kim Hynes, Marta Bayly, Ingrid Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha Turner, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David JonesRebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sophie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, Andrew Jenkinson, Rebecca Shepherd, James Gusella, Zaid Afawi, Aziz Mazarib, Miriam Neufeld, Sara Kivity, Dorit Lev, Tally Lerman-Sagie, Amos Korczyn, Christopher Derry, Grant Sutherland, Kathyrn Friend, Marie Shaw, Mark Corbett, Hyung-Goo Kim, Daniel Geschwind, Paul Thomas, Eric Haan, Stephen Ryan, Shane McKee, Samuel Berkovic, P Futreal, Michael Stratton, John Mulley, Jozef Gecz

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

318 Citations (Scopus)

Original language	English
Pages (from-to)	776-781
Number of pages	6
Journal	Nature Genetics
Volume	40
Issue number	6
Publication status	Published - 2008

Cite this

Dibbens, L., Tarpey, P., Hynes, K., Bayly, M., Scheffer, I., Smith, R., Bomar, J., Sutton, E., Vandeleur, L., Shoubridge, C., Edkins, S., Turner, S., Stevens, C., O'Meara, S., Tofts, C., Barthorpe, S., Buck, G., Cole, J., Halliday, K., ... Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics, 40(6), 776-781.

Dibbens, Leanne ; Tarpey, Patrick ; Hynes, Kim ; Bayly, Marta ; Scheffer, Ingrid ; Smith, Raffaella ; Bomar, Jamee ; Sutton, Edwina ; Vandeleur, Lucianne ; Shoubridge, Cheryl ; Edkins, Sarah ; Turner, Samantha ; Stevens, Claire ; O'Meara, Sarah ; Tofts, Calli ; Barthorpe, Syd ; Buck, Gemma ; Cole, Jennifer ; Halliday, Kelly ; Jones, David ; Lee, Rebecca ; Madison, Mark ; Mironenko, Tatiana ; Varian, Jennifer ; West, Sophie ; Widaa, Sara ; Wray, Paul ; Teague, John ; Dicks, Ed ; Butler, Adam ; Menzies, Andrew ; Jenkinson, Andrew ; Shepherd, Rebecca ; Gusella, James ; Afawi, Zaid ; Mazarib, Aziz ; Neufeld, Miriam ; Kivity, Sara ; Lev, Dorit ; Lerman-Sagie, Tally ; Korczyn, Amos ; Derry, Christopher ; Sutherland, Grant ; Friend, Kathyrn ; Shaw, Marie ; Corbett, Mark ; Kim, Hyung-Goo ; Geschwind, Daniel ; Thomas, Paul ; Haan, Eric ; Ryan, Stephen ; McKee, Shane ; Berkovic, Samuel ; Futreal, P ; Stratton, Michael ; Mulley, John ; Gecz, Jozef. / X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. In: Nature Genetics. 2008 ; Vol. 40, No. 6. pp. 776-781.

@article{91d6392a7bbd4707b637ff30a15acbb4,

title = "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment",

author = "Leanne Dibbens and Patrick Tarpey and Kim Hynes and Marta Bayly and Ingrid Scheffer and Raffaella Smith and Jamee Bomar and Edwina Sutton and Lucianne Vandeleur and Cheryl Shoubridge and Sarah Edkins and Samantha Turner and Claire Stevens and Sarah O'Meara and Calli Tofts and Syd Barthorpe and Gemma Buck and Jennifer Cole and Kelly Halliday and David Jones and Rebecca Lee and Mark Madison and Tatiana Mironenko and Jennifer Varian and Sophie West and Sara Widaa and Paul Wray and John Teague and Ed Dicks and Adam Butler and Andrew Menzies and Andrew Jenkinson and Rebecca Shepherd and James Gusella and Zaid Afawi and Aziz Mazarib and Miriam Neufeld and Sara Kivity and Dorit Lev and Tally Lerman-Sagie and Amos Korczyn and Christopher Derry and Grant Sutherland and Kathyrn Friend and Marie Shaw and Mark Corbett and Hyung-Goo Kim and Daniel Geschwind and Paul Thomas and Eric Haan and Stephen Ryan and Shane McKee and Samuel Berkovic and P Futreal and Michael Stratton and John Mulley and Jozef Gecz",

year = "2008",

language = "English",

volume = "40",

pages = "776--781",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "6",

}

Dibbens, L, Tarpey, P, Hynes, K, Bayly, M, Scheffer, I, Smith, R, Bomar, J, Sutton, E, Vandeleur, L, Shoubridge, C, Edkins, S, Turner, S, Stevens, C, O'Meara, S, Tofts, C, Barthorpe, S, Buck, G, Cole, J, Halliday, K, Jones, D, Lee, R, Madison, M, Mironenko, T, Varian, J, West, S, Widaa, S, Wray, P, Teague, J, Dicks, E, Butler, A, Menzies, A, Jenkinson, A, Shepherd, R, Gusella, J, Afawi, Z, Mazarib, A, Neufeld, M, Kivity, S, Lev, D, Lerman-Sagie, T, Korczyn, A, Derry, C, Sutherland, G, Friend, K, Shaw, M, Corbett, M, Kim, H-G, Geschwind, D, Thomas, P, Haan, E, Ryan, S, McKee, S, Berkovic, S, Futreal, P, Stratton, M, Mulley, J & Gecz, J 2008, 'X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment', Nature Genetics, vol. 40, no. 6, pp. 776-781.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. / Dibbens, Leanne; Tarpey, Patrick; Hynes, Kim; Bayly, Marta; Scheffer, Ingrid; Smith, Raffaella; Bomar, Jamee; Sutton, Edwina; Vandeleur, Lucianne; Shoubridge, Cheryl; Edkins, Sarah; Turner, Samantha; Stevens, Claire; O'Meara, Sarah; Tofts, Calli; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Halliday, Kelly; Jones, David; Lee, Rebecca; Madison, Mark; Mironenko, Tatiana; Varian, Jennifer; West, Sophie; Widaa, Sara; Wray, Paul; Teague, John; Dicks, Ed; Butler, Adam; Menzies, Andrew; Jenkinson, Andrew; Shepherd, Rebecca; Gusella, James; Afawi, Zaid; Mazarib, Aziz; Neufeld, Miriam; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Korczyn, Amos; Derry, Christopher; Sutherland, Grant; Friend, Kathyrn; Shaw, Marie; Corbett, Mark; Kim, Hyung-Goo; Geschwind, Daniel; Thomas, Paul; Haan, Eric; Ryan, Stephen; McKee, Shane; Berkovic, Samuel; Futreal, P; Stratton, Michael; Mulley, John; Gecz, Jozef.

In: Nature Genetics, Vol. 40, No. 6, 2008, p. 776-781.

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

TY - JOUR

T1 - X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

AU - Dibbens, Leanne

AU - Tarpey, Patrick

AU - Hynes, Kim

AU - Bayly, Marta

AU - Scheffer, Ingrid

AU - Smith, Raffaella

AU - Bomar, Jamee

AU - Sutton, Edwina

AU - Vandeleur, Lucianne

AU - Shoubridge, Cheryl

AU - Edkins, Sarah

AU - Turner, Samantha

AU - Stevens, Claire

AU - O'Meara, Sarah

AU - Tofts, Calli

AU - Barthorpe, Syd

AU - Buck, Gemma

AU - Cole, Jennifer

AU - Halliday, Kelly

AU - Jones, David

AU - Lee, Rebecca

AU - Madison, Mark

AU - Mironenko, Tatiana

AU - Varian, Jennifer

AU - West, Sophie

AU - Widaa, Sara

AU - Wray, Paul

AU - Teague, John

AU - Dicks, Ed

AU - Butler, Adam

AU - Menzies, Andrew

AU - Jenkinson, Andrew

AU - Shepherd, Rebecca

AU - Gusella, James

AU - Afawi, Zaid

AU - Mazarib, Aziz

AU - Neufeld, Miriam

AU - Kivity, Sara

AU - Lev, Dorit

AU - Lerman-Sagie, Tally

AU - Korczyn, Amos

AU - Derry, Christopher

AU - Sutherland, Grant

AU - Friend, Kathyrn

AU - Shaw, Marie

AU - Corbett, Mark

AU - Kim, Hyung-Goo

AU - Geschwind, Daniel

AU - Thomas, Paul

AU - Haan, Eric

AU - Ryan, Stephen

AU - McKee, Shane

AU - Berkovic, Samuel

AU - Futreal, P

AU - Stratton, Michael

AU - Mulley, John

AU - Gecz, Jozef

PY - 2008

Y1 - 2008

M3 - Article

VL - 40

SP - 776

EP - 781

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 6

ER -