Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine Marie Johannesen; Yuanyuan Liu; Catherine E. Gjerulfsen; Mahmoud Koko; Lukas Sonnenberg; Julian Schubert; Christina Duhring Fenger; Ahmed Eltokhi; Maert Rannap; Nils Koch; Stephan Lauxmann; Johanna Krueger; Josua Kegele; Laura Canafoglia; Silvana Franceschetti; Thomas Mayer; Johannes Rebstock; Pia Zacher; Susanne Ruf; Michael Alber; Katalin Sterbova; Petra Lassuthova; Marketa Vlckova; Johannes Lemke; Ilona Krey; Constanze Heine; Dagmar Wieczorek; Judith Kroell; Caroline Lund; Karl Martin Klein; Py Billie Au; Jong Rho; Alice Ho; Silvia Masnada; Pierangelo Veggiotti; Lucio Giordano; Patrizia Accorsi; Christina Hoi-Hansen; Pasquale Striano; Federico Zara; Helene Verhelst; Judith S. Verhoeven; Bert van der Zwaag; Aster Harder; Eva Brilstra; Manuela Pendziwiat; Sebastien Lebon; Maria Vaccarezza; Ngoc Minh Le; Jakob Christensen; Mette Schmidt-Petersen; Sabine Gronborg; Stephen Scherer; Jennifer Howe; Walid Fazeli; Katherine Howell; Richard Leventer; Chloe Stutterd; Sonja Walsh; Marion Gerard; Benedicte Gerard; Sara Matricardi; Claudia M. Bonardi; Stefano Sartori; Andrea Berger; Dorota Hoffman-Zacharska; Massimo Mastrangelo; Francesca Darra; Arve Vollo; M. Mahdi Motazacker; Phillis Lakeman; Mathilde Nizon; Cornelia Betzler; Cecilia Altuzarra; Roseline Caumes; Agathe Roubertie; Philippe Gelisse; Carla Marini; Renzo Guerrini; Frederic Bilan; Margarete Koch-Hogrebe; Scott Perry; Shoji Ichikawa; Elena Dadali; Artem Sharkov; Irina Mishina; Mikhail Abramov; Ilya Kanivets; Sergey Korostelev; Sergey Kutsev; Karen E. Wain; Nancy Eisenhauer; Monisa Wagner; Juliann Savatt; Karen Mueller-Schlueter; Haim Bassan; Artem Borovikov; Marie-Cecile Nassogne; Anne Destree; An-Sofie Schoonjans; Marije Meuwissen; Marga Buzatu; Anna Jansen; Emmanuel Scalais; Siddarth Srivastava; Wen-Hann Tan; Heather Olson; Tobias Loddenkemper; Annapurna Poduri; Katherine L. Helbig; Ingo Helbig; Mark Fitzgerald; Ethan M. Goldberg; Timo Roser; Ingo Borggrafe; Tobias Brunger; Patrick May; Dennis Lal; Damien Lederer; Guido Rubboli; Gaetan Lesca; Ulrike Hedrich; Jan Benda; Elena Gardella; Holger Lerche; Rikke Steensbjerre Moeller

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine Marie Johannesen, Yuanyuan Liu, Catherine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert, Christina Duhring Fenger, Ahmed Eltokhi, Maert Rannap, Nils Koch, Stephan Lauxmann, Johanna Krueger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael AlberKatalin Sterbova, Petra Lassuthova, Marketa Vlckova, Johannes Lemke, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell, Caroline Lund, Karl Martin Klein, Py Billie Au, Jong Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Hoi-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S. Verhoeven, Bert van der Zwaag, Aster Harder, Eva Brilstra, Manuela Pendziwiat, Sebastien Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Mette Schmidt-Petersen, Sabine Gronborg, Stephen Scherer, Jennifer Howe, Walid Fazeli, Katherine Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Benedicte Gerard, Sara Matricardi, Claudia M. Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vollo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caumes, Agathe Roubertie, Philippe Gelisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Margarete Koch-Hogrebe, Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann Savatt, Karen Mueller-Schlueter, Haim Bassan, Artem Borovikov, Marie-Cecile Nassogne, Anne Destree, An-Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddarth Srivastava, Wen-Hann Tan, Heather Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L. Helbig, Ingo Helbig, Mark Fitzgerald, Ethan M. Goldberg, Timo Roser, Ingo Borggrafe, Tobias Brunger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Gaetan Lesca, Ulrike Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke Steensbjerre Moeller

IRS - Epilepsihospitalet Filadelfia, Forskningsenhed for Epilepsigenetik og Personlig Medicin (Dianalund)

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Artikelnummer	80
Tidsskrift	Epilepsia
Vol/bind	62
Udgave nummer	Suppl. 3
Sider (fra-til)	34-36
ISSN	0013-9580
Status	Udgivet - nov. 2021
Begivenhed	34th International Epilepsy Congress - Varighed: 28. aug. 2021 → 1. sep. 2021 Konferencens nummer: 34

Konference

Konference	34th International Epilepsy Congress
Nummer	34
Periode	28/08/2021 → 01/09/2021

Dokumenter og links

https://doi.org/10.1111/epi.17079Licens: Kun læseadgang

SDU link

Tjek adgangen til materialet i Syddansk Universitetsbiblioteks søgemaskine

Citationsformater

Johannesen, K. M., Liu, Y., Gjerulfsen, C. E., Koko, M., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N., Lauxmann, S., Krueger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., ... Moeller, R. S. (2021). Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Epilepsia, 62(Suppl. 3), 34-36. Artikel 80. https://doi.org/10.1111/epi.17079

@article{dbc1ad76767b4f9bae13c20c093d233e,

title = "Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications",

author = "Johannesen, {Katrine Marie} and Yuanyuan Liu and Gjerulfsen, {Catherine E.} and Mahmoud Koko and Lukas Sonnenberg and Julian Schubert and Fenger, {Christina Duhring} and Ahmed Eltokhi and Maert Rannap and Nils Koch and Stephan Lauxmann and Johanna Krueger and Josua Kegele and Laura Canafoglia and Silvana Franceschetti and Thomas Mayer and Johannes Rebstock and Pia Zacher and Susanne Ruf and Michael Alber and Katalin Sterbova and Petra Lassuthova and Marketa Vlckova and Johannes Lemke and Ilona Krey and Constanze Heine and Dagmar Wieczorek and Judith Kroell and Caroline Lund and Klein, {Karl Martin} and Au, {Py Billie} and Jong Rho and Alice Ho and Silvia Masnada and Pierangelo Veggiotti and Lucio Giordano and Patrizia Accorsi and Christina Hoi-Hansen and Pasquale Striano and Federico Zara and Helene Verhelst and Verhoeven, {Judith S.} and {van der Zwaag}, Bert and Aster Harder and Eva Brilstra and Manuela Pendziwiat and Sebastien Lebon and Maria Vaccarezza and Le, {Ngoc Minh} and Jakob Christensen and Mette Schmidt-Petersen and Sabine Gronborg and Stephen Scherer and Jennifer Howe and Walid Fazeli and Katherine Howell and Richard Leventer and Chloe Stutterd and Sonja Walsh and Marion Gerard and Benedicte Gerard and Sara Matricardi and Bonardi, {Claudia M.} and Stefano Sartori and Andrea Berger and Dorota Hoffman-Zacharska and Massimo Mastrangelo and Francesca Darra and Arve Vollo and Motazacker, {M. Mahdi} and Phillis Lakeman and Mathilde Nizon and Cornelia Betzler and Cecilia Altuzarra and Roseline Caumes and Agathe Roubertie and Philippe Gelisse and Carla Marini and Renzo Guerrini and Frederic Bilan and Margarete Koch-Hogrebe and Scott Perry and Shoji Ichikawa and Elena Dadali and Artem Sharkov and Irina Mishina and Mikhail Abramov and Ilya Kanivets and Sergey Korostelev and Sergey Kutsev and Wain, {Karen E.} and Nancy Eisenhauer and Monisa Wagner and Juliann Savatt and Karen Mueller-Schlueter and Haim Bassan and Artem Borovikov and Marie-Cecile Nassogne and Anne Destree and An-Sofie Schoonjans and Marije Meuwissen and Marga Buzatu and Anna Jansen and Emmanuel Scalais and Siddarth Srivastava and Wen-Hann Tan and Heather Olson and Tobias Loddenkemper and Annapurna Poduri and Helbig, {Katherine L.} and Ingo Helbig and Mark Fitzgerald and Goldberg, {Ethan M.} and Timo Roser and Ingo Borggrafe and Tobias Brunger and Patrick May and Dennis Lal and Damien Lederer and Guido Rubboli and Gaetan Lesca and Ulrike Hedrich and Jan Benda and Elena Gardella and Holger Lerche and Moeller, {Rikke Steensbjerre}",

year = "2021",

month = nov,

language = "English",

volume = "62",

pages = "34--36",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley",

number = "Suppl. 3",

note = "34th International Epilepsy Congress ; Conference date: 28-08-2021 Through 01-09-2021",

}

Johannesen, KM, Liu, Y, Gjerulfsen, CE, Koko, M, Sonnenberg, L, Schubert, J, Fenger, CD, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, KM, Au, PB, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, JS, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, NM, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, CM, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, MM, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, KE, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, KL, Helbig, I, Fitzgerald, M, Goldberg, EM, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, RS 2021, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Epilepsia, bind 62, nr. Suppl. 3, 80, s. 34-36. <https://doi.org/10.1111/epi.17079>

TY - ABST

T1 - Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

AU - Johannesen, Katrine Marie

AU - Liu, Yuanyuan

AU - Gjerulfsen, Catherine E.

AU - Koko, Mahmoud

AU - Sonnenberg, Lukas

AU - Schubert, Julian

AU - Fenger, Christina Duhring

AU - Eltokhi, Ahmed

AU - Rannap, Maert

AU - Koch, Nils

AU - Lauxmann, Stephan

AU - Krueger, Johanna

AU - Kegele, Josua

AU - Canafoglia, Laura

AU - Franceschetti, Silvana

AU - Mayer, Thomas

AU - Rebstock, Johannes

AU - Zacher, Pia

AU - Ruf, Susanne

AU - Alber, Michael

AU - Sterbova, Katalin

AU - Lassuthova, Petra

AU - Vlckova, Marketa

AU - Lemke, Johannes

AU - Krey, Ilona

AU - Heine, Constanze

AU - Wieczorek, Dagmar

AU - Kroell, Judith

AU - Lund, Caroline

AU - Klein, Karl Martin

AU - Au, Py Billie

AU - Rho, Jong

AU - Ho, Alice

AU - Masnada, Silvia

AU - Veggiotti, Pierangelo

AU - Giordano, Lucio

AU - Accorsi, Patrizia

AU - Hoi-Hansen, Christina

AU - Striano, Pasquale

AU - Zara, Federico

AU - Verhelst, Helene

AU - Verhoeven, Judith S.

AU - van der Zwaag, Bert

AU - Harder, Aster

AU - Brilstra, Eva

AU - Pendziwiat, Manuela

AU - Lebon, Sebastien

AU - Vaccarezza, Maria

AU - Le, Ngoc Minh

AU - Christensen, Jakob

AU - Schmidt-Petersen, Mette

AU - Gronborg, Sabine

AU - Scherer, Stephen

AU - Howe, Jennifer

AU - Fazeli, Walid

AU - Howell, Katherine

AU - Leventer, Richard

AU - Stutterd, Chloe

AU - Walsh, Sonja

AU - Gerard, Marion

AU - Gerard, Benedicte

AU - Matricardi, Sara

AU - Bonardi, Claudia M.

AU - Sartori, Stefano

AU - Berger, Andrea

AU - Hoffman-Zacharska, Dorota

AU - Mastrangelo, Massimo

AU - Darra, Francesca

AU - Vollo, Arve

AU - Motazacker, M. Mahdi

AU - Lakeman, Phillis

AU - Nizon, Mathilde

AU - Betzler, Cornelia

AU - Altuzarra, Cecilia

AU - Caumes, Roseline

AU - Roubertie, Agathe

AU - Gelisse, Philippe

AU - Marini, Carla

AU - Guerrini, Renzo

AU - Bilan, Frederic

AU - Koch-Hogrebe, Margarete

AU - Perry, Scott

AU - Ichikawa, Shoji

AU - Dadali, Elena

AU - Sharkov, Artem

AU - Mishina, Irina

AU - Abramov, Mikhail

AU - Kanivets, Ilya

AU - Korostelev, Sergey

AU - Kutsev, Sergey

AU - Wain, Karen E.

AU - Eisenhauer, Nancy

AU - Wagner, Monisa

AU - Savatt, Juliann

AU - Mueller-Schlueter, Karen

AU - Bassan, Haim

AU - Borovikov, Artem

AU - Nassogne, Marie-Cecile

AU - Destree, Anne

AU - Schoonjans, An-Sofie

AU - Meuwissen, Marije

AU - Buzatu, Marga

AU - Jansen, Anna

AU - Scalais, Emmanuel

AU - Srivastava, Siddarth

AU - Tan, Wen-Hann

AU - Olson, Heather

AU - Loddenkemper, Tobias

AU - Poduri, Annapurna

AU - Helbig, Katherine L.

AU - Helbig, Ingo

AU - Fitzgerald, Mark

AU - Goldberg, Ethan M.

AU - Roser, Timo

AU - Borggrafe, Ingo

AU - Brunger, Tobias

AU - May, Patrick

AU - Lal, Dennis

AU - Lederer, Damien

AU - Rubboli, Guido

AU - Lesca, Gaetan

AU - Hedrich, Ulrike

AU - Benda, Jan

AU - Gardella, Elena

AU - Lerche, Holger

AU - Moeller, Rikke Steensbjerre

N1 - Conference code: 34

PY - 2021/11

Y1 - 2021/11

M3 - Conference abstract in journal

SN - 0013-9580

VL - 62

SP - 34

EP - 36

JO - Epilepsia

JF - Epilepsia

IS - Suppl. 3

M1 - 80

T2 - 34th International Epilepsy Congress

Y2 - 28 August 2021 through 1 September 2021

ER -