Fanconi Syndrome under ketogenic diet in a patient with NSF variant associated developmental and epileptic encephalopathy

被引：0
|
作者：
Katrina, Evers [1 ]
Dimitra, Lekaditi [2 ]
Alexandre, Datta [2 ]
Alexandra, Goischke [1 ]
机构：
[1] Univ Childrens Hosp Basel UKBB, Dept Paediat Nephrol, Basel, Switzerland
[2] Univ Childrens Hosp Basel UKBB, Child Neurol & Dev Med Dept, Basel, Switzerland
来源：
SWISS MEDICAL WEEKLY | 2024年 / 154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：
P 33
引用
收藏
页码：30S / 31S
页数：2
相关论文
共 50 条
  • [41] Renal tubular acidosis with Fanconi syndrome caused by ketogenic diet: Report of two cases
    Rokicki, D.
    Zubiel, M.
    Malinowska, A.
    Kowalik, A.
    Sykut-Cegielska, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 146 - 146
  • [42] A novel VARS2 gene variant in a patient with epileptic encephalopathy
    Ruzman, Lucija
    Kolic, Ivana
    Nisevic, Jelena Radic
    Barsic, Antonija Ruzic
    Prpic, Ingrid Skarpa
    Prpic, Igor
    UPSALA JOURNAL OF MEDICAL SCIENCES, 2019, 124 (04) : 273 - 277
  • [43] Ketogenic diet in refractory epilepsies in childhood efficacy and tolerability according to epileptic syndrome
    Caraballo, RH
    Cersosimo, RO
    Sakr, D
    Fejerman, N
    EPILEPSIA, 2005, 46 : 195 - 195
  • [44] A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
    Yang, Li
    Wan, Xingyu
    Hua, Ran
    Jiang, Junhong
    Wang, Baotian
    Tao, Rui
    Wu, De
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2025, 12 (01): : 137 - 148
  • [45] Ketogenic Diet Therapy for Epilepsy Associated With Aicardi Syndrome
    Sanchez, Miguel A. Ramirez
    Cervenka, Mackenzie C.
    Bessone, Stacey K.
    Kossoff, Eric H.
    JOURNAL OF CHILD NEUROLOGY, 2021, 36 (11) : 1007 - 1010
  • [46] Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
    Soldovieri, Maria Virginia
    Freri, Elena
    Ambrosino, Paolo
    Rivolta, Ilaria
    Mosca, Ilaria
    Binda, Anna
    Murano, Carmen
    Ragona, Francesca
    Canafoglia, Laura
    Vannicola, Chiara
    Solazzi, Roberta
    Granata, Tiziana
    Castellotti, Barbara
    Messina, Giuliana
    Gellera, Cinzia
    Labalme, Audrey
    Lesca, Gaetan
    DiFrancesco, Jacopo C.
    Taglialatela, Maurizio
    PHARMACOLOGICAL RESEARCH, 2020, 160
  • [47] Effects of Ketogenic diet on seizures, development, and longterm EEG findings in intractable epileptic encephalopathy in children.
    Kim, HD
    EPILEPSIA, 1999, 40 : 232 - 232
  • [48] Treatment of the Child with Early Infantile Epileptic Encephalopathy-5 (EIEE5) with Ketogenic Diet
    Bachanski, M.
    Krawiecka, E.
    Bachane, S.
    EPILEPSIA, 2018, 59 : S325 - S325
  • [49] Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6 months of life
    Song, Tianyu
    Deng, Jie
    Chen, Chunhong
    Wang, Xiaohui
    Han, Tongli
    Wang, Xu
    Fang, Tie
    Tian, Xiaojuan
    Fang, Fang
    EPILEPSIA OPEN, 2024, 9 (02) : 643 - 652
  • [50] FGF12 copy number variant associated with epileptic encephalopathy
    Abraham, Anna
    Ramsey, Keri
    Belnap, Newell
    Szelinger, Szabolcs
    Jepsen, Wayne
    Balak, Chris
    Sanchez-Castillo, Meredith
    Naymik, Marcus
    Bonfitto, Anna
    Rangasamy, Sampathkumar
    Kruglyak, Semyon
    Huentelman, Matthew
    Narayanan, Vinodh
    CLINICAL GENETICS, 2024, 106 (01) : 114 - 115
12345