Three novel SLC2A1 mutations in GLUT1DS pediatric patients

被引:0
|
作者
Mauri, Alessia [1 ,2 ]
Duse, Alessandra [1 ]
Olivotto, Sara [3 ]
Bova, Stefania [3 ]
Veggiotti, Pierangelo [1 ,3 ]
Cereda, Cristina [2 ]
机构
[1] Univ Milan, Dept Biomed & Clin Sci L Sacco, Milan, Italy
[2] V Buzzi Childrens Hosp, Neonatal Screening & Metab Disorders Unit, Milan, Italy
[3] V Buzzi Childrens Hosp, Pediat Neurol Unit, Milan, Italy
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P07.023.A
引用
收藏
页码:427 / 428
页数:2
相关论文
共 50 条
  • [1] The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
    Sanchez-Lijarcio, Obdulia
    Yubero, Delia
    Leal, Fatima
    Couce, Maria L.
    Gonzalez Gutierrez-Solana, Luis
    Lopez-Laso, Eduardo
    Garcia-Cazorla, Angels
    Pias-Peleteiro, Leticia
    de Azua Brea, Begona
    Ibanez-Mico, Salvador
    Mateo-Martinez, Gonzalo
    Troncoso-Schifferli, Monica
    Witting-Enriquez, Scarlet
    Ugarte, Magdalena
    Artuch, Rafael
    Perez, Belen
    CLINICAL GENETICS, 2022, 102 (01) : 40 - 55
  • [2] GLUT1DS focus on dysarthria
    Corradini, Miriam
    Zanaboni, Martina Paola
    Varesio, Costanza
    Celario, Massimiliano
    Capelli, Elena
    Giudice, Carla
    Quaranta, Carlo Alberto
    Mensi, Martina Maria
    Pasca, Ludovica
    De Giorgis, Valentina
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2024, 51 : 62 - 70
  • [3] First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene
    Fung, Eva Lai-wah
    Ho, Yuan Yuan
    Hui, Joannie
    Wong, Jack Ho
    Ng, Tzi-Bun
    Fong, Nga-Yin Fion
    Klepper, Joerg
    Tsui, Kwok-Wing Stephen
    BRAIN & DEVELOPMENT, 2011, 33 (02): : 170 - 173
  • [4] Absence of SLC2A1 Mutations Does Not Exclude Glut1 Deficiency Syndrome
    Klepper, Joerg
    NEUROPEDIATRICS, 2013, 44 (04) : 235 - 236
  • [5] Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
    Klepper, Joerg
    Akman, Cigdem
    Armeno, Marisa
    Auvin, Stephane
    Cervenka, Mackenzie
    Cross, Helen J.
    De Giorgis, Valentina
    Della Marina, Adela
    Engelstad, Kristin
    Heussinger, Nicole
    Kossoff, Eric H.
    Leen, Wilhelmina G.
    Leiendecker, Baerbel
    Monani, Umrao R.
    Oguni, Hirokazu
    Neal, Elizabeth
    Pascual, Juan M.
    Pearson, Toni S.
    Pons, Roser
    Scheffer, Ingrid E.
    Veggiotti, Pierangelo
    Willemsen, Michel
    Zuberi, Sameer M.
    De Vivo, Darryl C.
    EPILEPSIA OPEN, 2020, 5 (03) : 354 - 365
  • [6] Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations
    Di Vito, Lidia
    Licchetta, Laura
    Pippucci, Tommaso
    Baldassari, Sara
    Stipa, Carlotta
    Mostacci, Barbara
    Alvisi, Lara
    Tinuper, Paolo
    Bisulli, Francesca
    EPILEPSY & BEHAVIOR, 2018, 79 : 169 - 173
  • [7] NOVEL MUTATIONS IN SLC2A1 GENE: PHENOTYPE VARIABILITY OF GLUT1 DEFICIENCY SYNDROME IN A SMALL CASE SERIES
    Di Vito, L.
    Licchetta, L.
    Stipa, C.
    Alvisi, L.
    Mostacci, B.
    Naldi, I.
    Baldassari, S.
    Pippucci, T.
    Marini, C.
    Bisulli, F.
    Tinuper, P.
    EPILEPSIA, 2017, 58 : S175 - S175
  • [8] GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation
    Ivancevic, Nikola
    Cerovac, Natasa
    Nikolic, Blazo
    Cuturilo, Goran
    Marjanovic, Ana
    Brankovic, Marija
    Novakovic, Ivana
    VOJNOSANITETSKI PREGLED, 2019, 76 (05) : 543 - 546
  • [9] Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome
    Ivanova, Nevyana
    Peycheva, Valentina
    Kamenarova, Kunka
    Kancheva, Dalia
    Tsekova, Irina
    Aleksandrova, Iliana
    Hristova, Dimitrina
    Litvinenko, Ivan
    Todorova, Diana
    Sarailieva, Gergana
    Dimova, Petya
    Tomov, Veselin
    Bozhinova, Veneta
    Mitev, Vanio
    Kaneva, Radka
    Jordanova, Albena
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2018, 54 : 41 - 44
  • [10] Characterization of Speech and Language Phenotype in GLUT1DS
    Zanaboni, Martina Paola
    Pasca, Ludovica
    Villa, Barbara Valeria
    Faggio, Antonella
    Grumi, Serena
    Provenzi, Livio
    Varesio, Costanza
    De Giorgis, Valentina
    CHILDREN-BASEL, 2021, 8 (05):