Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

被引：0
|
作者：
Rolvien, Tim [1 ]
Butscheidt, Sebastian [1 ]
Jeschke, Anke [1 ]
Neu, Axel [2 ]
Denecke, Jonas [2 ]
Kubisch, Christian [3 ]
Meisler, Miriam [4 ]
Pueschel, Klaus [5 ]
Barvencik, Florian [1 ]
Yorgan, Timur [1 ]
Oheim, Ralf [1 ]
Schinke, Thorsten [1 ]
Amling, Michael [1 ]
机构：
[1] Univ Med Ctr Hamburg Eppendorf, Dept Osteol & Biomech, Hamburg, Germany
[2] Univ Med Ctr Hamburg Eppendorf, Dept Neuropediat, Hamburg, Germany
[3] Univ Med Ctr Hamburg Eppendorf, Dept Human Genet, Hamburg, Germany
[4] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
[5] Univ Med Ctr Hamburg Eppendorf, Dept Legal Med, Hamburg, Germany
来源：
JOURNAL OF BONE AND MINERAL RESEARCH | 2017年 / 32卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
SA0035
引用
收藏
页码：S125 / S125
页数：1
相关论文
共 50 条
  • [1] Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
    Rolvien, Tim
    Butscheidt, Sebastian
    Jeschke, Anke
    Neu, Axel
    Denecke, Jonas
    Kubisch, Christian
    Meisler, Miriam H.
    Pueschel, Klaus
    Barvencik, Florian
    Yorgan, Timur
    Oheim, Ralf
    Schinke, Thorsten
    Amling, Michael
    BONE, 2017, 103 : 136 - 143
  • [2] Autonomic seizure with prominent apnea in patient with SCN8A-related epileptic encephalopathy
    Zawadzka, Marta
    Matheisel, Agnieszka
    Konieczna, Seweryna
    Mazurkiewicz-Beldzinska, Maria
    EPILEPSY RESEARCH, 2020, 167
  • [3] Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy
    Wengert, Eric R.
    Tronhjem, Cathrine E.
    Wagnon, Jacy L.
    Johannesen, Katrine M.
    Petit, Hayley
    Krey, Ilona
    Saga, Anusha U.
    Panchal, Payal S.
    Strohm, Samantha M.
    Lange, Joern
    Kamphausen, Susanne B.
    Rubboli, Guido
    Lemke, Johannes R.
    Gardella, Elena
    Patel, Manoj K.
    Meisler, Miriam H.
    Moller, Rikke S.
    EPILEPSIA, 2019, 60 (11) : 2277 - 2285
  • [4] Re: Autonomic seizure with prominent apnea in patient with SCN8A-related epileptic encephalopathy
    Kim, Hyo Jeong
    Yang, Donghwa
    Kang, Hoon-Chul
    EPILEPSY RESEARCH, 2020, 167
  • [5] ENLARGING THE SPECTRUM OF SCN8A-RELATED EPILEPTIC SYNDROMES
    Gardella, E.
    Rubboli, G.
    Larsen, J.
    Becker, F.
    Schubert, J.
    Lemke, J.
    Kluger, G.
    Syrbe, S.
    Jepsen, B.
    Gellert, P.
    Nikanorova, M.
    Hjalgrim, H.
    Beniczky, S.
    Lerche, H.
    Weber, Y. G.
    Moller, R. S.
    EPILEPSIA, 2015, 56 : 125 - 125
  • [6] A Novel Approach to Assess the Impact of Disease in Patients with SCN8A-Related Developmental and Epileptic Encephalopathy
    Dalby, Kelley
    Snyder, Ted
    Matthews, Lillian
    Oldham, Michael
    Petrou, Steven
    Souza, Marcio
    NEUROLOGY, 2023, 100 (17)
  • [7] SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation
    Negishi, Yutaka
    Aoki, Yusuke
    Itomi, Kazuya
    Yasuda, Kazushi
    Taniguchi, Hiroaki
    Ishida, Atsushi
    Arakawa, Takeshi
    Miyamoto, Sachiko
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Saitoh, Shinji
    BRAIN & DEVELOPMENT, 2021, 43 (07): : 804 - 808
  • [8] Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy
    Solazzi, Roberta
    Castellotti, Barbara
    Canafoglia, Laura
    Messina, Giuliana
    Magri, Stefania
    Freri, Elena
    Ragona, Francesca
    Franceschetti, Silvana
    Di Francesco, Jacopo C.
    Gellera, Cinzia
    Granata, Tiziana
    EPILEPTIC DISORDERS, 2021, 23 (04) : 643 - 647
  • [9] Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy
    Haubenberger, Dietrich
    Grayson, Celene
    Cutts, Alison
    Luzon, Constanza
    Butterfield, Noam
    Savoie, Hillary
    Hammer, Michael F.
    Schreiber, John
    Pimstone, Simon N.
    Aycardi, Ernesto
    Harden, Cynthia
    Jen, Eric
    Nguyen, Trung
    NEUROLOGY, 2021, 96 (15)
  • [10] Early mortality in SCN8A-related epilepsies
    Johannesen, Katrine M.
    Gardella, Elena
    Scheffer, Ingrid
    Howell, Katherine
    Smith, Douglas M.
    Helbig, Ingo
    Moller, Rikke S.
    Rubboli, Guido
    EPILEPSY RESEARCH, 2018, 143 : 79 - 81
12345