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
  • [11] Dravet Syndrome: A Developmental and Epileptic Encephalopathy
    Lopez-Santiago, Luis
    Isom, Lori L.
    EPILEPSY CURRENTS, 2019, 19 (01) : 51 - 53
  • [12] Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
    Alaamery, Manal
    Massadeh, Salam
    Aldarwish, Manar
    Albesher, Nour
    Aljawini, Nora
    Alahmed, Othman
    Kashgari, Amna
    Walsh, Christopher A.
    Eyaid, Wafaa
    FRONTIERS IN GENETICS, 2024, 14
  • [13] NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
    Mignon-Ravix, Cecile
    Riccardi, Florence
    Daquin, Geraldine
    Cacciagli, Pierre
    Lamoureux-Toth, Sylvie
    Villard, Laurent
    Villeneuve, Nathalie
    Molinari, Florence
    EPILEPSIA, 2023, 64 (06) : E127 - E134
  • [14] Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
    Hayashi, Takahiro
    Yano, Naoko
    Kora, Kengo
    Yokoyama, Atsushi
    Maizuru, Kanako
    Kayaki, Taisei
    Nishikawa, Kinuko
    Osawa, Mitsujiro
    Niwa, Akira
    Takenouchi, Toshiki
    Hijikata, Atsushi
    Shirai, Tsuyoshi
    Suzuki, Hisato
    Kosaki, Kenjiro
    Saito, Megumu K.
    Takita, Junko
    Yoshida, Takeshi
    HUMAN MOLECULAR GENETICS, 2023, 32 (10) : 1683 - 1697
  • [15] Ketogenic diet in a patient with Angelman syndrome
    Evangeliou, Athanasios
    Doulioglou, Vai
    Haidopoulou, Katerina
    Aptouramani, Maria
    Spilioti, Martha
    Varlamis, Georgios
    PEDIATRICS INTERNATIONAL, 2010, 52 (05) : 831 - 834
  • [16] THE KETOGENIC DIET IS EFFECTIVE FOR REFRACTORY EPILEPSY DUE TO ACQUIRED STRUCTURAL EPILEPTIC ENCEPHALOPATHY
    Lomax, Boisse L.
    Villaluz, M. M.
    Jadhav, T.
    Cross, J. H.
    Scheffer, I. E.
    EPILEPSIA, 2013, 54 : 95 - 96
  • [17] ATP1A3-related epileptic encephalopathy responding to ketogenic diet
    Schirinzi, Tommaso
    Graziola, Federica
    Cusmai, Raffaella
    Fusco, Lucia
    Nicita, Francesco
    Elia, Mirella
    Travaglini, Lorena
    Bertini, Enrico
    Curatolo, Paolo
    Vigevano, Federico
    Capuano, Alessandro
    BRAIN & DEVELOPMENT, 2018, 40 (05): : 433 - 438
  • [18] Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency
    Joshi, Charuta
    Kolbe, Diana L.
    Mansilla, M. Adela
    Mason, Sara
    Smith, Richard J. H.
    Campbell, Colleen A.
    BRAIN & DEVELOPMENT, 2016, 38 (09): : 848 - 851
  • [19] Risk of pellagroid dermatitis during a ketogenic diet in an epileptic patient
    Schmutz, J. -L
    Trechot, P.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2011, 138 (10): : 718 - 719
  • [20] FANCONI SYNDROME IN A PATIENT WITH A VARIANT OF ISOVALERIC ACIDEMIA
    ARNOLD, WC
    BREWSTER, M
    BYRNE, WJ
    BOOTH, B
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1986, 7 (02): : 95 - 98
12345