GENETIC AND PHENOTYPIC HETEROGENEITY SUGGEST THERAPEUTIC IMPLICATIONS IN SCN2A-RELATED DISORDERS

被引：0
|
作者：
Wolff, M. [1 ]
Johannesen, K. M. [2 ]
Hedrich, U. B. S. [3 ]
Kluger, G. [4 ]
Lerche, H. [3 ]
Moller, R. S. [2 ]
机构：
[1] Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, Tubingen, Germany
[2] Danish Epilepsy Ctr, Dianalund, Denmark
[3] Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany
[4] Epilepsy Ctr Children & Adolescents, Schoen Klin, Vogtareuth, Germany
来源：
EPILEPSIA | 2017年 / 58卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
0023
引用
收藏
页码：S12 / S13
页数：2
相关论文
共 50 条
  • [21] SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital
    Baumer, Fiona M.
    Peters, Jurriaan M.
    El Achkar, Christelle M.
    Pearl, Phillip L.
    JOURNAL OF PEDIATRIC EPILEPSY, 2016, 5 (01) : 42 - 46
  • [22] Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders (vol 147, pg 2761, 2024)
    Berg, Anne T.
    Thompson, Christopher H.
    Myers, Leah Schust
    Anderson, Erica
    Evans, Lindsey
    Kaiser, Ariela J. E.
    Paltell, Katherine
    Nili, Amanda N.
    DeKeyser, Jean-Marc L.
    Abramova, Tatiana V.
    Nesbitt, Gerry
    Egan, Shawn M.
    Vanoye, Carlos G.
    George, Alfred L.
    BRAIN, 2024,
  • [23] PHENOTYPIC, GENETIC, AND CLINICAL HETEROGENEITY IN COMPLEX NEUROPSYCHIATRIC DISORDERS
    Serur, Yaffa
    McClellan, Jon
    JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2024, 63 (10): : S358 - S358
  • [24] SCN2A-RELATED EPILEPTIC ENCEPHALOPATHIES: EXTENDED PHENOTYPE AND RESPONSE TO SODIUM CHANNEL BLOCKERS
    Wolff, M.
    Loddenkemper, T.
    Jillella, D.
    Doecker, M.
    Wong-Kisiel, L. C.
    Moller, R. S.
    Weckhuysen, S.
    Ceulemans, B.
    Klepper, J.
    Baumeister, F. A.
    Koolen, D. A.
    Kluger, G.
    EPILEPSIA, 2014, 55 : 37 - 37
  • [25] Catatonia Associated With a SCN2A-Related Disorder in a 4-Year-Old Child
    Leroy, Arnaud
    Corfiotti, Claire
    Tich, Sylvie Nguyen The
    Ferrafiat, Vladimir
    Amad, Ali
    Jardri, Renaud
    Medjkane, Francois
    PEDIATRICS, 2018, 142 (05)
  • [26] CHARACTERIZATION OF IPSC-DERIVED NEURONS FROM PATIENTS WITH SCN2A-RELATED AUTISM
    Rossi, E. A.
    Santos, I. M.
    Souza, I. S.
    Paredes, B. D.
    Santos, J. L. S.
    Loiola, E. C.
    Souza, B. S. F.
    CYTOTHERAPY, 2022, 24 (10) : S26 - S26
  • [27] Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
    Johannesen, Katrine Marie
    Liu, Yuanyuan
    Gjerulfsen, Catherine E.
    Koko, Mahmoud
    Sonnenberg, Lukas
    Schubert, Julian
    Fenger, Christina Duhring
    Eltokhi, Ahmed
    Rannap, Maert
    Koch, Nils
    Lauxmann, Stephan
    Krueger, Johanna
    Kegele, Josua
    Canafoglia, Laura
    Franceschetti, Silvana
    Mayer, Thomas
    Rebstock, Johannes
    Zacher, Pia
    Ruf, Susanne
    Alber, Michael
    Sterbova, Katalin
    Lassuthova, Petra
    Vlckova, Marketa
    Lemke, Johannes
    Krey, Ilona
    Heine, Constanze
    Wieczorek, Dagmar
    Kroell, Judith
    Lund, Caroline
    Klein, Karl Martin
    Au, Py Billie
    Rho, Jong
    Ho, Alice
    Masnada, Silvia
    Veggiotti, Pierangelo
    Giordano, Lucio
    Accorsi, Patrizia
    Hoi-Hansen, Christina
    Striano, Pasquale
    Zara, Federico
    Verhelst, Helene
    Verhoeven, Judith S.
    van der Zwaag, Bert
    Harder, Aster
    Brilstra, Eva
    Pendziwiat, Manuela
    Lebon, Sebastien
    Vaccarezza, Maria
    Ngoc Minh Le
    Christensen, Jakob
    EPILEPSIA, 2021, 62 : 34 - 36
  • [28] Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
    Johannesen, Katrine M.
    Liu, Yuanyuan
    Koko, Mahmoud
    Gjerulfsen, Cathrine E.
    Sonnenberg, Lukas
    Schubert, Julian
    Fenger, Christina D.
    Eltokhi, Ahmed
    Rannap, Maert
    Koch, Nils A.
    Lauxmann, Stephan
    Krueger, Johanna
    Kegele, Josua
    Canafoglia, Laura
    Franceschetti, Silvana
    Mayer, Thomas
    Rebstock, Johannes
    Zacher, Pia
    Ruf, Susanne
    Alber, Michael
    Sterbova, Katalin
    Lassuthova, Petra
    Vlckova, Marketa
    Lemke, Johannes R.
    Platzer, Konrad
    Krey, Ilona
    Heine, Constanze
    Wieczorek, Dagmar
    Kroell-Seger, Judith
    Lund, Caroline
    Klein, Karl Martin
    Au, P. Y. Billie
    Rho, Jong M.
    Ho, Alice W.
    Masnada, Silvia
    Veggiotti, Pierangelo
    Giordano, Lucio
    Accorsi, Patrizia
    Hoei-Hansen, Christina E.
    Striano, Pasquale
    Zara, Federico
    Verhelst, Helene
    Verhoeven, Judith S.
    Braakman, Hilde M. H.
    van der Zwaag, Bert
    Harder, Aster V. E.
    Brilstra, Eva
    Pendziwiat, Manuela
    Lebon, Sebastian
    Vaccarezza, Maria
    BRAIN, 2022, : 2991 - 3009
  • [29] Prenatal Diagnosis of SCN2A-related severe developmental and epileptic encephalopathy 11 by trio exome analysis
    Ahting, Uwe
    Corinna, Siegel
    Platzer, Konrad
    Lemke, Johannes
    Stoecklein, Sophia
    Huebener, Christoph
    Hoertnagel, Konstanze
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1306 - 1307
  • [30] Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021
    Filippi, Corinna
    Milito, Giuseppe
    Accorsi, Patrizia
    Muda, Alice
    Fazzi, Elisa Maria
    Martelli, Paola
    Riva, Antonella
    Giordano, Lucio
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2023, 234
12345