Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since ACTH and the opioids display opposite effects on experimentally-induced seizures, cerebrospinal fluid (CSF) levels of ACTH and beta-endorphin (beta-EP) were measured in 6 children (4-8 months) affected by infantile spasms with hypsarhythmia, an idiopathic early onset encephalopathy, and in 8 age-matched controls. beta-EP levels in the patients (76.3 +/- 14.7 fmol/ml, M +/- SD) did not differ from those in controls (109.8 +/- 42.7) while babies with epileptic encephalopathy showed reduced ACTH levels in the CSF (3.8 +/- 1.5) as compared to controls (9.0 +/- 3.7, p less than 0.01). This resulted in an increased beta-EP/ACTH ratio. Another patient previously treated with ACTH showed a normal CSF level of ACTH (9.0) with a normal beta-EP/ACTH ratio while in clinical and EEG remission. These results are consistent with the hypothesis that some infantile seizures unrelated to brain injuries could originate from an ACTH deficiency at central level and/or an imbalance of neuropeptidergic pathways.
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PMID:Reduced ACTH, while normal beta-endorphin CSF levels in early epileptic encephalopathies. 298 81

Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed. Result: The boy is the second child of healthy and nonconsanguineous parents.At 7 months, he started to have seizures with head dropping, and he was brought for the first time to our hospital at the age of 17 months.The patient presented with severe psychomotor retardation, epilepsy, muscular hypotonia, and electroencephalography showed hypsarhythmia.He received 28 days of adrenocorticotropic hormone (ACTH) therapy.After that, his seizures were improved with valproic acid and levetiracetam, and disappeared between 3 years and 5 months to 5 years and 5 months of age on treatment with valproic acid only.Exome-sequencing study (trios) identified novel heterozygous mutation c. 443A>G (p.Glu148Arg) in DNM1. Up to now, 9 cases of epileptic encephalopathy (infantile spasms or Lennox-Gastaut syndrome) associated with de novo DNM1 gene mutations have been reported. Conclusion: The main clinical features of DNM1 mutations include intractable seizures, intellectual disability, developmental delay, hypotonia, and developmental delay before the onset of seizures.
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PMID:[Dynamin-1-related infantile spasms: a case report and review of literature]. 2780 96