Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

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DOI
10.1016/j.gim.2022.09.013
Published
2023-01
Container
Genetics in Medicine
Publisher
Elsevier BV
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gim.2022.09.013,
  title = {Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia},
  author = {Heba Morsy and Mehdi Benkirane and Elisa Cali and Clarissa Rocca and Kristina Zhelcheska and Valentina Cipriani and Evangelia Galanaki and Reza Maroofian and Stephanie Efthymiou and David Murphy and Mary O’Driscoll and Mohnish Suri and Siddharth Banka and Jill Clayton-Smith and Thomas Wright and Melody Redman and Jennifer A. Bassetti and Mathilde Nizon and Benjamin Cogne and Rami Abu Jamra and Tobias Bartolomaeus and Marion Heruth and Ilona Krey and Janina Gburek-Augustat and Dagmar Wieczorek and Felix Gattermann and Meriel Mcentagart and Alice Goldenberg and Lucie Guyant-Marechal and Hector Garcia-Moreno and Paola Giunti and Brigitte Chabrol and Severine Bacrot and Roger Buissonnière and Virginie Magry and Vykuntaraju K. Gowda and Varunvenkat M. Srinivasan and Béla Melegh and András Szabó and Katalin Sümegi and Mireille Cossée and Monica Ziff and Russell Butterfield and David Hunt and Georgina Bird-Lieberman and Michael Hanna and Michel Koenig and Michael Stankewich and Jana Vandrovcova and Henry Houlden and J.C. Ambrose and P. Arumugam and E.L. Baple and M. Bleda and F. Boardman-Pretty and J.M. Boissiere and C.R. Boustred and H. Brittain and M.J. Caulfield and G.C. Chan and C.E.H. Craig and L.C. Daugherty and A. de Burca and A. Devereau and G. Elgar and R.E. Foulger and T. Fowler and P. Furió-Tarí and J.M. Hackett and D. Halai and A. Hamblin and S. Henderson and J.E. Holman and T.J.P. Hubbard and K. Ibáñez and R. Jackson and L.J. Jones and D. Kasperaviciute and M. Kayikci and L. Lahnstein and K. Lawson and S.E.A. Leigh and I.U.S. Leong and F.J. Lopez and F. Maleady-Crowe and J. Mason and E.M. McDonagh and L. Moutsianas and M. Mueller and N. Murugaesu and A.C. Need and C.A. Odhams and C. Patch and D. Perez-Gil and D. Polychronopoulos and J. Pullinger and T. Rahim and A. Rendon and P. Riesgo-Ferreiro and T. Rogers and M. Ryten and K. Savage and K. Sawant and R.H. Scott and A. Siddiq and A. Sieghart and D. Smedley and K.R. Smith and A. Sosinsky and W. Spooner and H.E. Stevens and A. Stuckey and R. Sultana and E.R.A. Thomas and S.R. Thompson and C. Tregidgo and A. Tucci and E. Walsh and S.A. Watters and M.J. Welland and E. Williams and K. Witkowska and S.M. Wood and M. Zarowiecki},
  year = {2023},
  journal = {Genetics in Medicine},
  doi = {10.1016/j.gim.2022.09.013},
  url = {https://doi.org/10.1016/j.gim.2022.09.013}
}

RIS

TY  - JOUR
TI  - Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
AU  - Heba Morsy
AU  - Mehdi Benkirane
AU  - Elisa Cali
AU  - Clarissa Rocca
AU  - Kristina Zhelcheska
AU  - Valentina Cipriani
AU  - Evangelia Galanaki
AU  - Reza Maroofian
AU  - Stephanie Efthymiou
AU  - David Murphy
AU  - Mary O’Driscoll
AU  - Mohnish Suri
AU  - Siddharth Banka
AU  - Jill Clayton-Smith
AU  - Thomas Wright
AU  - Melody Redman
AU  - Jennifer A. Bassetti
AU  - Mathilde Nizon
AU  - Benjamin Cogne
AU  - Rami Abu Jamra
AU  - Tobias Bartolomaeus
AU  - Marion Heruth
AU  - Ilona Krey
AU  - Janina Gburek-Augustat
AU  - Dagmar Wieczorek
AU  - Felix Gattermann
AU  - Meriel Mcentagart
AU  - Alice Goldenberg
AU  - Lucie Guyant-Marechal
AU  - Hector Garcia-Moreno
AU  - Paola Giunti
AU  - Brigitte Chabrol
AU  - Severine Bacrot
AU  - Roger Buissonnière
AU  - Virginie Magry
AU  - Vykuntaraju K. Gowda
AU  - Varunvenkat M. Srinivasan
AU  - Béla Melegh
AU  - András Szabó
AU  - Katalin Sümegi
AU  - Mireille Cossée
AU  - Monica Ziff
AU  - Russell Butterfield
AU  - David Hunt
AU  - Georgina Bird-Lieberman
AU  - Michael Hanna
AU  - Michel Koenig
AU  - Michael Stankewich
AU  - Jana Vandrovcova
AU  - Henry Houlden
AU  - J.C. Ambrose
AU  - P. Arumugam
AU  - E.L. Baple
AU  - M. Bleda
AU  - F. Boardman-Pretty
AU  - J.M. Boissiere
AU  - C.R. Boustred
AU  - H. Brittain
AU  - M.J. Caulfield
AU  - G.C. Chan
AU  - C.E.H. Craig
AU  - L.C. Daugherty
AU  - A. de Burca
AU  - A. Devereau
AU  - G. Elgar
AU  - R.E. Foulger
AU  - T. Fowler
AU  - P. Furió-Tarí
AU  - J.M. Hackett
AU  - D. Halai
AU  - A. Hamblin
AU  - S. Henderson
AU  - J.E. Holman
AU  - T.J.P. Hubbard
AU  - K. Ibáñez
AU  - R. Jackson
AU  - L.J. Jones
AU  - D. Kasperaviciute
AU  - M. Kayikci
AU  - L. Lahnstein
AU  - K. Lawson
AU  - S.E.A. Leigh
AU  - I.U.S. Leong
AU  - F.J. Lopez
AU  - F. Maleady-Crowe
AU  - J. Mason
AU  - E.M. McDonagh
AU  - L. Moutsianas
AU  - M. Mueller
AU  - N. Murugaesu
AU  - A.C. Need
AU  - C.A. Odhams
AU  - C. Patch
AU  - D. Perez-Gil
AU  - D. Polychronopoulos
AU  - J. Pullinger
AU  - T. Rahim
AU  - A. Rendon
AU  - P. Riesgo-Ferreiro
AU  - T. Rogers
AU  - M. Ryten
AU  - K. Savage
AU  - K. Sawant
AU  - R.H. Scott
AU  - A. Siddiq
AU  - A. Sieghart
AU  - D. Smedley
AU  - K.R. Smith
AU  - A. Sosinsky
AU  - W. Spooner
AU  - H.E. Stevens
AU  - A. Stuckey
AU  - R. Sultana
AU  - E.R.A. Thomas
AU  - S.R. Thompson
AU  - C. Tregidgo
AU  - A. Tucci
AU  - E. Walsh
AU  - S.A. Watters
AU  - M.J. Welland
AU  - E. Williams
AU  - K. Witkowska
AU  - S.M. Wood
AU  - M. Zarowiecki
PY  - 2023
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2022.09.013
UR  - https://doi.org/10.1016/j.gim.2022.09.013
ER  -

APA

Morsy, H., Benkirane, M., Cali, E., Rocca, C., Zhelcheska, K., Cipriani, V., Galanaki, E., Maroofian, R., Efthymiou, S., Murphy, D., O’Driscoll, M., Suri, M., Banka, S., Clayton-Smith, J., Wright, T., Redman, M., Bassetti, J. A., Nizon, M., Cogne, B., Jamra, R. A., Bartolomaeus, T., Heruth, M., Krey, I., Gburek-Augustat, J., Wieczorek, D., Gattermann, F., Mcentagart, M., Goldenberg, A., Guyant-Marechal, L., Garcia-Moreno, H., Giunti, P., Chabrol, B., Bacrot, S., Buissonnière, R., Magry, V., Gowda, V. K., Srinivasan, V. M., Melegh, B., Szabó, A., Sümegi, K., Cossée, M., Ziff, M., Butterfield, R., Hunt, D., Bird-Lieberman, G., Hanna, M., Koenig, M., Stankewich, M., Vandrovcova, J., Houlden, H., Ambrose, J., Arumugam, P., Baple, E., Bleda, M., Boardman-Pretty, F., Boissiere, J., Boustred, C., Brittain, H., Caulfield, M., Chan, G., Craig, C., Daugherty, L., Burca, A. D., Devereau, A., Elgar, G., Foulger, R., Fowler, T., Furió-Tarí, P., Hackett, J., Halai, D., Hamblin, A., Henderson, S., Holman, J., Hubbard, T., Ibáñez, K., Jackson, R., Jones, L., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S., Leong, I., Lopez, F., Maleady-Crowe, F., Mason, J., McDonagh, E., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A., Odhams, C., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R., Siddiq, A., Sieghart, A., Smedley, D., Smith, K., Sosinsky, A., Spooner, W., Stevens, H., Stuckey, A., Sultana, R., Thomas, E., Thompson, S., Tregidgo, C., Tucci, A., Walsh, E., Watters, S., Welland, M., Williams, E., Witkowska, K., Wood, S., & Zarowiecki, M. (2023). Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genetics in Medicine. https://doi.org/10.1016/j.gim.2022.09.013

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