Matches in SemOpenAlex for { <https://semopenalex.org/work/W2122132256> ?p ?o ?g. }
- W2122132256 endingPage "e1096" @default.
- W2122132256 startingPage "e1092" @default.
- W2122132256 abstract "Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene encoding α-aminoadipic semialdehyde dehydrogenase. The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy. White matter abnormalities, corpus callosum agenesis or hypoplasia, megacisterna magna, cortical dysplasia, neuronal heterotopias, intracerebral hemorrhage, and hydrocephalus in neuroimaging have been reported in patients with PDE. We report a new patient with asymmetric progressive ventriculomegaly noted on fetal sonography at 22 weeks’ gestation. Postnatal brain sonography on day 1 and MRI on day 5 confirmed bilateral asymmetric ventriculomegaly caused by bilateral subependymal cysts. Intractable seizures at age 7 days initially responded to phenobarbital. Markedly elevated urinary α-aminoadipic acid semialdehyde levels and compound heterozygous mutations in the ALDH7A1 gene (c.446C>A/c.919C>T) confirmed the diagnosis of PDE caused by ALDH7A1 genetic defect. Despite the presence of structural brain malformations and subependymal cysts, PDE should always be included in the differential diagnosis of neonatal seizures that are refractory to treatment with antiepileptic drugs." @default.
- W2122132256 created "2016-06-24" @default.
- W2122132256 creator A5010222397 @default.
- W2122132256 creator A5017178425 @default.
- W2122132256 creator A5021363576 @default.
- W2122132256 creator A5037450041 @default.
- W2122132256 creator A5079902287 @default.
- W2122132256 date "2014-04-01" @default.
- W2122132256 modified "2023-09-26" @default.
- W2122132256 title "Fetal Onset Ventriculomegaly and Subependymal Cysts in a Pyridoxine Dependent Epilepsy Patient" @default.
- W2122132256 cites W1919329033 @default.
- W2122132256 cites W1966141109 @default.
- W2122132256 cites W1978492529 @default.
- W2122132256 cites W1992235757 @default.
- W2122132256 cites W2001337305 @default.
- W2122132256 cites W2006334932 @default.
- W2122132256 cites W2013859310 @default.
- W2122132256 cites W2016003824 @default.
- W2122132256 cites W2029242576 @default.
- W2122132256 cites W2036816631 @default.
- W2122132256 cites W2040756263 @default.
- W2122132256 cites W2047639924 @default.
- W2122132256 cites W2052605715 @default.
- W2122132256 cites W2064865977 @default.
- W2122132256 cites W2065888702 @default.
- W2122132256 cites W2066947648 @default.
- W2122132256 cites W2070810028 @default.
- W2122132256 cites W2071379242 @default.
- W2122132256 cites W2071404870 @default.
- W2122132256 cites W2082131743 @default.
- W2122132256 cites W2083479403 @default.
- W2122132256 cites W2107917270 @default.
- W2122132256 cites W2111814389 @default.
- W2122132256 cites W2135114355 @default.
- W2122132256 cites W2136203478 @default.
- W2122132256 cites W2145908472 @default.
- W2122132256 cites W2152448846 @default.
- W2122132256 cites W2157116018 @default.
- W2122132256 doi "https://doi.org/10.1542/peds.2013-1230" @default.
- W2122132256 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24664088" @default.
- W2122132256 hasPublicationYear "2014" @default.
- W2122132256 type Work @default.
- W2122132256 sameAs 2122132256 @default.
- W2122132256 citedByCount "23" @default.
- W2122132256 countsByYear W21221322562014 @default.
- W2122132256 countsByYear W21221322562015 @default.
- W2122132256 countsByYear W21221322562016 @default.
- W2122132256 countsByYear W21221322562017 @default.
- W2122132256 countsByYear W21221322562018 @default.
- W2122132256 countsByYear W21221322562019 @default.
- W2122132256 countsByYear W21221322562020 @default.
- W2122132256 countsByYear W21221322562021 @default.
- W2122132256 countsByYear W21221322562023 @default.
- W2122132256 crossrefType "journal-article" @default.
- W2122132256 hasAuthorship W2122132256A5010222397 @default.
- W2122132256 hasAuthorship W2122132256A5017178425 @default.
- W2122132256 hasAuthorship W2122132256A5021363576 @default.
- W2122132256 hasAuthorship W2122132256A5037450041 @default.
- W2122132256 hasAuthorship W2122132256A5079902287 @default.
- W2122132256 hasConcept C118552586 @default.
- W2122132256 hasConcept C126322002 @default.
- W2122132256 hasConcept C134018914 @default.
- W2122132256 hasConcept C142724271 @default.
- W2122132256 hasConcept C150253156 @default.
- W2122132256 hasConcept C172680121 @default.
- W2122132256 hasConcept C2776212519 @default.
- W2122132256 hasConcept C2777060296 @default.
- W2122132256 hasConcept C2778186239 @default.
- W2122132256 hasConcept C2778337148 @default.
- W2122132256 hasConcept C2778596996 @default.
- W2122132256 hasConcept C2779234561 @default.
- W2122132256 hasConcept C54355233 @default.
- W2122132256 hasConcept C71924100 @default.
- W2122132256 hasConcept C86803240 @default.
- W2122132256 hasConceptScore W2122132256C118552586 @default.
- W2122132256 hasConceptScore W2122132256C126322002 @default.
- W2122132256 hasConceptScore W2122132256C134018914 @default.
- W2122132256 hasConceptScore W2122132256C142724271 @default.
- W2122132256 hasConceptScore W2122132256C150253156 @default.
- W2122132256 hasConceptScore W2122132256C172680121 @default.
- W2122132256 hasConceptScore W2122132256C2776212519 @default.
- W2122132256 hasConceptScore W2122132256C2777060296 @default.
- W2122132256 hasConceptScore W2122132256C2778186239 @default.
- W2122132256 hasConceptScore W2122132256C2778337148 @default.
- W2122132256 hasConceptScore W2122132256C2778596996 @default.
- W2122132256 hasConceptScore W2122132256C2779234561 @default.
- W2122132256 hasConceptScore W2122132256C54355233 @default.
- W2122132256 hasConceptScore W2122132256C71924100 @default.
- W2122132256 hasConceptScore W2122132256C86803240 @default.
- W2122132256 hasIssue "4" @default.
- W2122132256 hasLocation W21221322561 @default.
- W2122132256 hasLocation W21221322562 @default.
- W2122132256 hasOpenAccess W2122132256 @default.
- W2122132256 hasPrimaryLocation W21221322561 @default.
- W2122132256 hasRelatedWork W1973833989 @default.
- W2122132256 hasRelatedWork W1993795923 @default.
- W2122132256 hasRelatedWork W2002562299 @default.
- W2122132256 hasRelatedWork W2091151050 @default.