Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.

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Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies. is …
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scholarly articleQ13442814

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P356DOI10.5698/1535-7597.18.1.24
P932PMC publication ID5967592
P698PubMed publication ID29844755

P50authorAnnapurna PoduriQ88604309
P2093author name stringM Scott Perry
P2860cites workDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesQ24563008
Exome sequencing reveals new causal mutations in children with epileptic encephalopathiesQ24604206
New-onset afebrile seizures in infants: role of neuroimagingQ30492848
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathyQ30970563
Copy number variation plays an important role in clinical epilepsyQ35804664
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.Q36886682
The contribution of next generation sequencing to epilepsy genetics.Q38632636
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsyQ46498407
Neuroimaging abnormalities in children with an apparent first unprovoked seizureQ48952382
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Q50594407
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)24-26
P577publication date2018-01-01
P1433published inEpilepsy CurrentsQ5382972
P1476titleTwo Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.
P478volume18

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