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Keywords: Apnea
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Journal Articles

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy

Subject Area:
Topic Article Package: Moksha , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Juha Koskenvuo, Carlo Fusco
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (2): 101–105.
https://doi.org/10.1159/000512566
Published Online: 21 May 2021
.... Early infantile epileptic encephalopathy (EIEE) type 54 is a rare epileptic encephalopathy caused by pathogenic variants in the heterogeneous nuclear ribonucleoprotein U ( HNRNPU ) gene. Only one case has been described in the literature with episodes of hyperventilation and apnea, but treatment...
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Journal Articles

Pitt-Hopkins Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
M. Peippo, J. Ignatius
Journal: Molecular Syndromology
Mol Syndromol (2012) 2 (3-5): 171–180.
https://doi.org/10.1159/000335287
Published Online: 29 December 2011
... to in the content or advertisements. Apnea Constipation Deletion of 18q Epilepsy Happy disposition Hyperpnea Myopia Pitt-Hopkins syndrome Stereotypic movements TCF4 Scoliosis is reported in more than one tenth of the individuals, but none of the published cases are known to have needed...
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