FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2553311023> ?p ?o ?g. }

• W2553311023 endingPage "e120" @default.
• W2553311023 startingPage "e120" @default.
• W2553311023 abstract "<h3>Objective:</h3> We describe 2 additional patients with early-onset epilepsy with a de novo <i>FGF12</i> mutation. <h3>Methods:</h3> Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to affected siblings in the original report. <h3>Results:</h3> We identified the same <i>FGF12</i> de novo mutation reported previously (c.G155A, p.R52H) in 2 additional patients with early-onset epilepsy. Similar to the original brothers described, both presented with tonic seizures in the first month of life. In the first patient, seizures responded to sodium channel blockers and her development was normal at 11 months. Patient 2 is a 15-year-old girl with treatment-resistant focal epilepsy, moderate intellectual disability, and autism. Carbamazepine (sodium channel blocker) was tried later in her course but not continued due to an allergic reaction. <h3>Conclusions:</h3> The identification of a recurrent de novo mutation in 2 additional unrelated probands with early-onset epilepsy supports the role of <i>FGF12</i> p.R52H in disease pathogenesis. Affected carriers presented with similar early clinical phenotypes; however, this report expands the phenotype associated with this mutation which contrasts with the progressive course and early mortality of the siblings in the original report." @default.
• W2553311023 created "2016-11-30" @default.
• W2553311023 creator A5000551451 @default.
• W2553311023 creator A5001419149 @default.
• W2553311023 creator A5011419057 @default.
• W2553311023 creator A5020829495 @default.
• W2553311023 creator A5035925359 @default.
• W2553311023 creator A5046265833 @default.
• W2553311023 creator A5046608306 @default.
• W2553311023 creator A5048711837 @default.
• W2553311023 creator A5051632364 @default.
• W2553311023 creator A5051809416 @default.
• W2553311023 creator A5053002960 @default.
• W2553311023 creator A5053473478 @default.
• W2553311023 creator A5057178817 @default.
• W2553311023 creator A5058519265 @default.
• W2553311023 creator A5082847937 @default.
• W2553311023 date "2016-11-10" @default.
• W2553311023 modified "2023-09-27" @default.
• W2553311023 title "De novo<i>FGF12</i>mutation in 2 patients with neonatal-onset epilepsy" @default.
• W2553311023 cites W1749057191 @default.
• W2553311023 cites W1808711893 @default.
• W2553311023 cites W2038397615 @default.
• W2553311023 cites W2051978340 @default.
• W2553311023 cites W2137077630 @default.
• W2553311023 cites W2169567789 @default.
• W2553311023 cites W2346579901 @default.
• W2553311023 cites W2559857749 @default.
• W2553311023 doi "https://doi.org/10.1212/nxg.0000000000000120" @default.
• W2553311023 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5113095" @default.
• W2553311023 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27872899" @default.
• W2553311023 hasPublicationYear "2016" @default.
• W2553311023 type Work @default.
• W2553311023 sameAs 2553311023 @default.
• W2553311023 citedByCount "24" @default.
• W2553311023 countsByYear W25533110232017 @default.
• W2553311023 countsByYear W25533110232018 @default.
• W2553311023 countsByYear W25533110232019 @default.
• W2553311023 countsByYear W25533110232020 @default.
• W2553311023 countsByYear W25533110232021 @default.
• W2553311023 countsByYear W25533110232022 @default.
• W2553311023 crossrefType "journal-article" @default.
• W2553311023 hasAuthorship W2553311023A5000551451 @default.
• W2553311023 hasAuthorship W2553311023A5001419149 @default.
• W2553311023 hasAuthorship W2553311023A5011419057 @default.
• W2553311023 hasAuthorship W2553311023A5020829495 @default.
• W2553311023 hasAuthorship W2553311023A5035925359 @default.
• W2553311023 hasAuthorship W2553311023A5046265833 @default.
• W2553311023 hasAuthorship W2553311023A5046608306 @default.
• W2553311023 hasAuthorship W2553311023A5048711837 @default.
• W2553311023 hasAuthorship W2553311023A5051632364 @default.
• W2553311023 hasAuthorship W2553311023A5051809416 @default.
• W2553311023 hasAuthorship W2553311023A5053002960 @default.
• W2553311023 hasAuthorship W2553311023A5053473478 @default.
• W2553311023 hasAuthorship W2553311023A5057178817 @default.
• W2553311023 hasAuthorship W2553311023A5058519265 @default.
• W2553311023 hasAuthorship W2553311023A5082847937 @default.
• W2553311023 hasBestOaLocation W25533110231 @default.
• W2553311023 hasConcept C104317684 @default.
• W2553311023 hasConcept C118552586 @default.
• W2553311023 hasConcept C127716648 @default.
• W2553311023 hasConcept C16671776 @default.
• W2553311023 hasConcept C187212893 @default.
• W2553311023 hasConcept C188997412 @default.
• W2553311023 hasConcept C2778186239 @default.
• W2553311023 hasConcept C2779253243 @default.
• W2553311023 hasConcept C2779674439 @default.
• W2553311023 hasConcept C501734568 @default.
• W2553311023 hasConcept C54355233 @default.
• W2553311023 hasConcept C551499885 @default.
• W2553311023 hasConcept C71924100 @default.
• W2553311023 hasConcept C86803240 @default.
• W2553311023 hasConceptScore W2553311023C104317684 @default.
• W2553311023 hasConceptScore W2553311023C118552586 @default.
• W2553311023 hasConceptScore W2553311023C127716648 @default.
• W2553311023 hasConceptScore W2553311023C16671776 @default.
• W2553311023 hasConceptScore W2553311023C187212893 @default.
• W2553311023 hasConceptScore W2553311023C188997412 @default.
• W2553311023 hasConceptScore W2553311023C2778186239 @default.
• W2553311023 hasConceptScore W2553311023C2779253243 @default.
• W2553311023 hasConceptScore W2553311023C2779674439 @default.
• W2553311023 hasConceptScore W2553311023C501734568 @default.
• W2553311023 hasConceptScore W2553311023C54355233 @default.
• W2553311023 hasConceptScore W2553311023C551499885 @default.
• W2553311023 hasConceptScore W2553311023C71924100 @default.
• W2553311023 hasConceptScore W2553311023C86803240 @default.
• W2553311023 hasIssue "6" @default.
• W2553311023 hasLocation W25533110231 @default.
• W2553311023 hasLocation W25533110232 @default.
• W2553311023 hasLocation W25533110233 @default.
• W2553311023 hasLocation W25533110234 @default.
• W2553311023 hasOpenAccess W2553311023 @default.
• W2553311023 hasPrimaryLocation W25533110231 @default.
• W2553311023 hasRelatedWork W1768599839 @default.
• W2553311023 hasRelatedWork W2599453280 @default.
• W2553311023 hasRelatedWork W2998731261 @default.
• W2553311023 hasRelatedWork W3212370104 @default.
• W2553311023 hasRelatedWork W4206509709 @default.

• next