Matches in SemOpenAlex for { <https://semopenalex.org/work/W3032538897> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W3032538897 abstract "Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a severe epilepsy syndrome composed of the triad of spasms, hypsarrhythmia, and mental retardation. There are limited clinical reports regarding WDR62 mutation and West syndrome. Here we report a boy who was identified with WDR62 mutation and was followed up from age 3 months to 5 months and 14 days. He had the first seizure as the classic epileptic spasm at the age of 3 months. Psychomotor retardation was noted before the seizure occurred. The head circumference was 38.5 cm (SD 2.6) when he was 4 months old, no dysmorphic facial features were observed. He couldn’t support his head steadily or turn over. He was able to laugh when tricked by the parents, but couldn’t track the sound and light. At the early stage, the electroencephalogram showed multifocal discharges, which evolved into hypsarrhythmia one month later, and brain MRI showed developmental malformation of cerebral gyrus. Two heterozygous mutations were identified in WDR62 by whole exome sequencing c.1535G > A, p.R512Q and c.2618dupT, p.K874Qfs*40. The patient was administrated with oral sodium valproate, nitrazepam, intramuscular adrenocorticotropic hormone for 2 weeks, and followed by prednisone, levetiracetam, topiramate and vigabatrin. However, there was no significant improvement on the seizure control after these treatments. According to the genetic report and clinical manifestation, we speculated that the WDR62 compound heterozygous mutation is responsible for the serious clinical phenotype." @default.
- W3032538897 created "2020-06-05" @default.
- W3032538897 creator A5004994169 @default.
- W3032538897 creator A5015012814 @default.
- W3032538897 creator A5023146372 @default.
- W3032538897 creator A5044667657 @default.
- W3032538897 creator A5053195007 @default.
- W3032538897 creator A5082276036 @default.
- W3032538897 date "2020-03-23" @default.
- W3032538897 modified "2023-10-05" @default.
- W3032538897 title "A case report of microcephaly and refractory West syndrome associated with WDR62 mutation" @default.
- W3032538897 cites W1597886318 @default.
- W3032538897 cites W1761806488 @default.
- W3032538897 cites W1980423535 @default.
- W3032538897 cites W2000766568 @default.
- W3032538897 cites W2047102660 @default.
- W3032538897 cites W2084654754 @default.
- W3032538897 cites W2113260757 @default.
- W3032538897 cites W2141972190 @default.
- W3032538897 cites W2146082584 @default.
- W3032538897 cites W2165942677 @default.
- W3032538897 cites W2231298399 @default.
- W3032538897 cites W2332741616 @default.
- W3032538897 cites W2556216293 @default.
- W3032538897 cites W2626358192 @default.
- W3032538897 cites W2700666780 @default.
- W3032538897 cites W2736428500 @default.
- W3032538897 cites W2745959028 @default.
- W3032538897 cites W2751605522 @default.
- W3032538897 cites W2759849034 @default.
- W3032538897 cites W2782809432 @default.
- W3032538897 cites W2808767383 @default.
- W3032538897 cites W2900430730 @default.
- W3032538897 cites W2913618878 @default.
- W3032538897 cites W2917041237 @default.
- W3032538897 doi "https://doi.org/10.1186/s42494-020-00012-2" @default.
- W3032538897 hasPublicationYear "2020" @default.
- W3032538897 type Work @default.
- W3032538897 sameAs 3032538897 @default.
- W3032538897 citedByCount "1" @default.
- W3032538897 countsByYear W30325388972021 @default.
- W3032538897 crossrefType "journal-article" @default.
- W3032538897 hasAuthorship W3032538897A5004994169 @default.
- W3032538897 hasAuthorship W3032538897A5015012814 @default.
- W3032538897 hasAuthorship W3032538897A5023146372 @default.
- W3032538897 hasAuthorship W3032538897A5044667657 @default.
- W3032538897 hasAuthorship W3032538897A5053195007 @default.
- W3032538897 hasAuthorship W3032538897A5082276036 @default.
- W3032538897 hasBestOaLocation W30325388971 @default.
- W3032538897 hasConcept C118552586 @default.
- W3032538897 hasConcept C187212893 @default.
- W3032538897 hasConcept C2775858608 @default.
- W3032538897 hasConcept C2776395126 @default.
- W3032538897 hasConcept C2777332695 @default.
- W3032538897 hasConcept C2778186239 @default.
- W3032538897 hasConcept C2778201146 @default.
- W3032538897 hasConcept C2779888125 @default.
- W3032538897 hasConcept C2780837902 @default.
- W3032538897 hasConcept C2910479173 @default.
- W3032538897 hasConcept C71924100 @default.
- W3032538897 hasConceptScore W3032538897C118552586 @default.
- W3032538897 hasConceptScore W3032538897C187212893 @default.
- W3032538897 hasConceptScore W3032538897C2775858608 @default.
- W3032538897 hasConceptScore W3032538897C2776395126 @default.
- W3032538897 hasConceptScore W3032538897C2777332695 @default.
- W3032538897 hasConceptScore W3032538897C2778186239 @default.
- W3032538897 hasConceptScore W3032538897C2778201146 @default.
- W3032538897 hasConceptScore W3032538897C2779888125 @default.
- W3032538897 hasConceptScore W3032538897C2780837902 @default.
- W3032538897 hasConceptScore W3032538897C2910479173 @default.
- W3032538897 hasConceptScore W3032538897C71924100 @default.
- W3032538897 hasFunder F4320335767 @default.
- W3032538897 hasFunder F4320335966 @default.
- W3032538897 hasIssue "1" @default.
- W3032538897 hasLocation W30325388971 @default.
- W3032538897 hasOpenAccess W3032538897 @default.
- W3032538897 hasPrimaryLocation W30325388971 @default.
- W3032538897 hasRelatedWork W2245264402 @default.
- W3032538897 hasRelatedWork W2416864280 @default.
- W3032538897 hasRelatedWork W2807814468 @default.
- W3032538897 hasRelatedWork W3020707539 @default.
- W3032538897 hasRelatedWork W3032538897 @default.
- W3032538897 hasRelatedWork W3033911004 @default.
- W3032538897 hasRelatedWork W3120980325 @default.
- W3032538897 hasRelatedWork W3124002180 @default.
- W3032538897 hasRelatedWork W3173130965 @default.
- W3032538897 hasRelatedWork W3179848823 @default.
- W3032538897 hasVolume "2" @default.
- W3032538897 isParatext "false" @default.
- W3032538897 isRetracted "false" @default.
- W3032538897 magId "3032538897" @default.
- W3032538897 workType "article" @default.