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Pretzel syndrome: Difference between revisions
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<ref>[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ | <ref>[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ | ||
Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]</ref> | Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]</ref> | ||
==Treatment== | |||
<ref>http://search.proquest.com/openview/c03b6627d94eb71e741206889933794f/1.pdf?pq-origsite=gscholar&cbl=33975</ref> | |||
==Links== | ==Links== | ||
[https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-and-symptomatic-epilepsy-syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome] | [https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-and-symptomatic-epilepsy-syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome] | ||
Revision as of 01:07, 4 May 2017
Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs [1]
Treatment
Links
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
Interwiki via Wikidata
- ↑ [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125/ Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder]
- ↑ http://search.proquest.com/openview/c03b6627d94eb71e741206889933794f/1.pdf?pq-origsite=gscholar&cbl=33975