Early onset dystonia/choreoathetosis/ataxia secondary to GLUT-1 deficiency, responsive to ketogenic diet

被引:0
|
作者
Friedman, JR
Thiele, EA
Wang, D
DeVivo, DC
Penny, A
Heidi, P
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P746
引用
收藏
页码:S233 / S233
页数:1
相关论文
共 49 条
  • [21] Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
    Vykuntaraju, K. N.
    Bhat, Srikanth
    Sanjay, K. S.
    Govindaraju, M.
    INDIAN JOURNAL OF PEDIATRICS, 2014, 81 (09): : 934 - 936
  • [22] GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?
    Klepper, Joerg
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2015, 57 (10): : 896 - 897
  • [23] Early-onset absence epilepsy associated with GLUT 1 deficiency
    Monese, Eduardo
    Cersosimo, Ricardo
    Escobal, Nidia
    Sassone, Adriana
    Caraballo, Roberto Horacio
    JOURNAL OF PEDIATRIC EPILEPSY, 2012, 1 (02) : 129 - 132
  • [24] Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature
    Tchapyjnikov, Dmitry
    Mikati, Mohamad A.
    NEUROLOGIST, 2018, 23 (01) : 17 - 18
  • [25] Absence epilepsy with onset before age three years: Could this be Glut-1 deficiency syndrome (De Vivo syndrome)?
    Hirsch, LJ
    EPILEPSIA, 2004, 45 (01) : 92 - 92
  • [26] Ketogenic Diet Therapy (KDT) and Nutritional Status in a Glut 1 Deficiency Syndrome (G1DS) Chilean Cohort
    Baeza, Cecilia
    Parga, Valentina
    Cabello, Francisco
    Castiglioni, Claudia
    Rios, Loreto
    Marin, Jose
    Perez, Carmen
    Cornejo, Veronica
    ANNALS OF NUTRITION AND METABOLISM, 2023, 79 : 697 - 698
  • [27] Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report
    Le, Audrey
    Yeganeh, Mehdi
    Buhas, Daniela
    Trempe, Marie-Josee
    Myers, Kenneth A.
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2020, 74 : 31 - 32
  • [28] Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
    Arsov, Todor
    Mullen, Saul A.
    Damiano, John A.
    Lawrence, Kate M.
    Huh, Linda L.
    Nolan, Melinda
    Young, Helen
    Thouin, Anais
    Dahl, Hans-Henrik M.
    Berkovic, Samuel F.
    Crompton, Douglas E.
    Sadleir, Lynette G.
    Scheffer, Ingrid E.
    EPILEPSIA, 2012, 53 (12) : e204 - e207
  • [29] Paroxysmal non-kinesiogenic dyskinesia, dystonia and gait disorder secondary to mild GLUT1 deficiency
    Finnegan, S. G.
    Lichter, D. G.
    MOVEMENT DISORDERS, 2011, 26 : S219 - S219
  • [30] Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study
    Ramm-Pettersen, Anette
    Nakken, Karl O.
    Skogseid, Inger M.
    Randby, Hans
    Skei, Erik B.
    Bindoff, Laurence A.
    Selmer, Kaja K.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2013, 55 (05): : 440 - 447