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The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Mol Diagn Ther. 2017 Aug;21(4):357-373. doi: 10.1007/s40291-017-0257-0.
Mol Diagn Ther. 2017.
PMID: 28197949
Review.
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. ...
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring e …
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
Delahaye-Duriez A, Srivastava P, Shkura K, Langley SR, Laaniste L, Moreno-Moral A, Danis B, Mazzuferi M, Foerch P, Gazina EV, Richards K, Petrou S, Kaminski RM, Petretto E, Johnson MR.
Delahaye-Duriez A, et al.
Genome Biol. 2016 Dec 13;17(1):245. doi: 10.1186/s13059-016-1097-7.
Genome Biol. 2016.
PMID: 27955713
Free PMC article.
RESULTS: We identified a co-expression network of 320 genes (M30), which is significantly enriched for non-synonymous de novo mutations ascertained from patients with monogenic epilepsy and for common variants associated with polygenic epilepsy. ...The most highly c …
RESULTS: We identified a co-expression network of 320 genes (M30), which is significantly enriched for non-synonymous de novo mutations asce …
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