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
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
  • [31] Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant
    Lu, Jin-Mei
    Zhang, Jian-Fang
    Ji, Cai-Hong
    Hu, Jing
    Wang, Kang
    NEUROLOGICAL SCIENCES, 2021, 42 (10) : 4325 - 4327
  • [32] A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay
    Magalie, Lodin-Pasquier
    Yline, Capri
    Olivier, Patat
    Blandine, Dozieres-Puyravel
    Nathalie, Couque
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (03)
  • [33] Role of ketogenic diet therapies and genetic aetiology in early infantile epileptic and developmental encephalopathies
    Dressler, A.
    Sutter, F.
    Maas, A.
    Schoenlaub, A.
    Hoeller, A.
    Schmidt, W. M.
    EPILEPSIA, 2024, 65 : 412 - 413
  • [34] Use of Ketogenic Diet in Two Indian Children with a Rare Early-Onset Epileptic Encephalopathy
    Pradeep Kumar Gunasekaran
    Veena Laxmi
    Asha Bilamge
    Lokesh Saini
    Indian Journal of Pediatrics, 2023, 90 : 414 - 414
  • [35] A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet
    Bashiri, Fahad A.
    Hudairi, Abrar
    Al Ghamdi, Malak
    Mahmoud, Adel A.
    JOURNAL OF PEDIATRIC EPILEPSY, 2018, 7 (04) : 148 - 151
  • [36] Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation
    Tian, Xiaoyu
    Zhang, Yange
    Zhang, Jinhong
    Lu, Yan
    Men, Xinyi
    Wang, Xiuxia
    YONSEI MEDICAL JOURNAL, 2021, 62 (04) : 370 - 373
  • [37] Use of Ketogenic Diet in Two Indian Children with a Rare Early-Onset Epileptic Encephalopathy
    Gunasekaran, Pradeep Kumar
    Laxmi, Veena
    Bilamge, Asha
    Saini, Lokesh
    INDIAN JOURNAL OF PEDIATRICS, 2023, 90 (04): : 414 - 414
  • [38] Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
    Boemer, Francois
    Josse, Claire
    Luis, Geraldine
    Di Valentin, Emmanuel
    Thiry, Jerome
    Cello, Christophe
    Caberg, Jean-Hubert
    Dadoumont, Caroline
    Harvengt, Julie
    Lumaka, Aime
    Bours, Vincent
    Debray, Francois-Guillaume
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (04)
  • [39] Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy
    Afsar, Tayyaba
    Huang, Xiaoyun
    Shah, Abid Ali
    Abbas, Safdar
    Bano, Shazia
    Mahmood, Arif
    Hu, Junjian
    Razak, Suhail
    Umair, Muhammad
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [40] Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene
    Kaur, Parneet
    Neethukrishna, Kausthubham
    Kumble, Ali
    Girisha, Katta M.
    Shukla, Anju
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (05) : 857 - 861