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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

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Exome Sequencing and the Management of Neurometabolic Disorders

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

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Copy number variation plays an important role in clinical epilepsy

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

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Beyond the single nucleotide variant in epilepsy genetics

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Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy

(2014) Jason Wang et al.   JAMA Neurology

14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

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