Acetazolamide for Severe Apnea in Pitt-Hopkins Syndrome

被引：14
作者：
Verhulst, Stijn L. [1 ]
De Dooy, J. [1 ]
Ramet, J. [1 ]
Bockaert, N. [2 ]
Van Coster, R. [2 ]
Ceulemans, B. [3 ]
De Backer, W. [4 ]
机构：
[1] Univ Antwerp Hosp, Dept Pediat, B-2650 Edegem, Belgium
[2] Ghent Univ Hosp, Dept Pediat Neurol, Ghent, Belgium
[3] Univ Antwerp Hosp, Dept Pediat Neurol, B-2650 Edegem, Belgium
[4] Univ Antwerp Hosp, Dept Resp Med, B-2650 Edegem, Belgium
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 04期
关键词：
CARBONIC-ANHYDRASE INHIBITION; CENTRAL SLEEP-APNEA; RETT-SYNDROME; AUTONOMIC DYSFUNCTION; POSTMORTEM BRAIN; BIOGENIC-AMINES; MICE; TCF4; DEFICIENCY; EXPRESSION;
D O I：
10.1002/ajmg.a.35247
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：932 / 934
页数：3
相关论文
共 24 条
  • [1] Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    Amiel, Jeanne
    Rio, Marlene
    de Pontual, Loic
    Redon, Richard
    Malan, Valerie
    Boddaert, Nathalie
    Plouin, Perrine
    Carter, Nigel P.
    Lyonnet, Stanislas
    Munnich, Arnold
    Colleaux, Laurence
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (05) : 988 - 993
  • [2] EFFECTS OF ACETAZOLAMIDE ON CEREBRAL ACID-BASE-BALANCE
    BICKLER, PE
    LITT, L
    BANVILLE, DL
    SEVERINGHAUS, JW
    [J]. JOURNAL OF APPLIED PHYSIOLOGY, 1988, 65 (01) : 422 - 427
  • [3] Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome
    Blue, ME
    Naidu, S
    Johnston, MV
    [J]. EXPERIMENTAL NEUROLOGY, 1999, 156 (02) : 345 - 352
  • [4] REDUCED CONCENTRATIONS AND INCREASED METABOLISM OF BIOGENIC-AMINES IN A SINGLE CASE OF RETT-SYNDROME - A POSTMORTEM BRAIN STUDY
    BRUCKE, T
    SOFIC, E
    KILLIAN, W
    RETT, A
    RIEDERER, P
    [J]. JOURNAL OF NEURAL TRANSMISSION, 1987, 68 (3-4) : 315 - 324
  • [5] MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    Chao, Hsiao-Tuan
    Zoghbi, Huda Y.
    Rosenmund, Christian
    [J]. NEURON, 2007, 56 (01) : 58 - 65
  • [6] Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    Chen, RZ
    Akbarian, S
    Tudor, M
    Jaenisch, R
    [J]. NATURE GENETICS, 2001, 27 (03) : 327 - 331
  • [7] SLEEP AND BREATHING - CENTRAL SLEEP-APNEA, PATHOGENESIS AND TREATMENT - AN OVERVIEW AND PERSPECTIVE
    DEBACKER, WA
    [J]. EUROPEAN RESPIRATORY JOURNAL, 1995, 8 (08) : 1372 - 1383
  • [8] Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth
    Katz, David M.
    Dutschmann, Mathias
    Ramirez, Jan-Marino
    Hilaire, Gerard
    [J]. RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY, 2009, 168 (1-2) : 101 - 108
  • [9] RETT SYNDROME - BIOGENIC-AMINES AND METABOLITES IN POSTMORTEM BRAIN
    LEKMAN, A
    WITTENGERSTROM, I
    GOTTFRIES, J
    HAGBERG, BA
    PERCY, AK
    SVENNERHOLM, L
    [J]. PEDIATRIC NEUROLOGY, 1989, 5 (06) : 357 - 362
  • [10] The Pitt-Hopkins Syndrome: Report of 16 New Patients and Clinical Diagnostic Criteria
    Marangi, Giuseppe
    Ricciardi, Stefania
    Orteschi, Daniela
    Lattante, Serena
    Murdolo, Marina
    Dallapiccola, Bruno
    Biscione, Chiara
    Lecce, Rosetta
    Chiurazzi, Pietro
    Romano, Corrado
    Greco, Donatella
    Pettinato, Rosa
    Sorge, Giovanni
    Pantaleoni, Chiara
    Alfei, Enrico
    Toldo, Irene
    Magnani, Cinzia
    Bonanni, Paolo
    Martinez, Federica
    Serra, Gigliola
    Battaglia, Domenica
    Lettori, Donatella
    Vasco, Gessica
    Baroncini, Anna
    Daolio, Cecilia
    Zollino, Marcella
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) : 1536 - 1545
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