Acetazolamide for severe apnea in Pitt-Hopkins syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35247/fullpdf
Reference24 articles.
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;Am J Hum Genet,2007
2. Effects of acetazolamide on cerebral acid-base balance;Bickler;J Appl Physiol,1988
3. Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome;Blue;Exp Neurol,1999
4. Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: A postmortem brain study;Brucke;J Neural Transm,1987
5. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number;Chao;Neuron,2007
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