Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Abstract Background Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hun...

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Bibliographic Details
Main Authors: David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Epilepsy
Epileptic encephalopathy
Targeted gene panel testing
MPS
Phenotype
KCNQ2
Online Access:http://link.springer.com/article/10.1186/s13023-018-0812-8

Internet

http://link.springer.com/article/10.1186/s13023-018-0812-8

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