Literature DB >> 22407847

Acetazolamide for severe apnea in Pitt-Hopkins syndrome.

Stijn L Verhulst1, J De Dooy, J Ramet, N Bockaert, R Van Coster, B Ceulemans, W De Backer.   

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Year:  2012        PMID： 22407847     DOI： 10.1002/ajmg.a.35247

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

Review 1.  Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Authors:  Kimberly Goodspeed; Cassandra Newsom; Mary Ann Morris; Craig Powell; Patricia Evans; Sailaja Golla
Journal:  J Child Neurol       Date:  2018-01-10       Impact factor: 1.987

Review 2.  Evaluation of Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome.

Authors:  Keri Martinowich; Debamitra Das; Srinidhi Rao Sripathy; Yishan Mai; Rakaia F Kenney; Brady J Maher
Journal:  Mol Psychiatry       Date:  2022-10-12       Impact factor: 13.437

3.  A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome.

Authors:  Megan Bone; Kimberly Goodspeed
Journal:  Child Neurol Open       Date:  2022-04-13

4.  Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.

Authors:  Matthew D Rannals; Brady J Maher
Journal:  Curr Genet Med Rep       Date:  2017-02-11

5.  Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

Authors:  Jessica Taytard; Stéphanie Valence; Chiara Sileo; Diana Rodriguez; Plamen Bokov; Guillaume Aubertin; Harriet Corvol; Nicole Beydon
Journal:  J Clin Sleep Med       Date:  2020-12-15       Impact factor: 4.062

Review 6.  Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.

Authors:  J David Sweatt
Journal:  Exp Mol Med       Date:  2013-05-03       Impact factor: 8.718
  6 in total

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