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- W396841805 abstract "Objective To assess the diagnostic value of NGS target resequencing approach for epileptic encephalopathies. Methods The diagnostic tool allows the screening of 20 genes which have been consistently associated with early-onset epileptic encephalopathy (EE): ALDH7A1, PNP0, ARHGEF9, ARX, SLC25A22, PLCB1, TBC1D24, PNKP, KCNT1, KCNQ2, SCN2A, SCN8A, STXBP1, SCN1A, PCDH19, CDKL5, SPTAN1, SLC2A1, ST3GAL3, GRIN2A). NGS have been performed by Ampliseq/Ion Torrent technology of at least 120X. Patients have been classified into 5 phenotypic classes: 1) EEs with onset in the first year of life; 2) infantile spasms/West syndrome 3) Dravet Syndrome 4) CSWS/Landau-Kleffner Syndrome 5) EEs with onset after the first year of life. Results Fifty-four patients have been analyzed: class 1, n° 26; class 2, n° 10; class 3, n° 6; class 4, n° 4; class 5, n° 8. Pathogenetic effects of variants have been attributed according to i) segregation analysis (inherited vs transmitted; putative functional effect (damaging vs benign); state-of-art genotype-phenotype correlations. We identified a total of 23 unreported variants: – n° 13 variants were classified as likely pathogenetic (24%) on the following genes: STXBP1 (n°2), SCN1A (n°2), SCN2A (n°2), KCNQ2 N°2), CDKL5 (n°2), KCTN1 (n°1), GRIN2A (n°1), PNPO (n°1). – n° 6 variants were classified of uncertain significance (11%): PCDH19 (n°1); SCN1A (n°1), ARHGEF9 (n°1), KCNQ2 (n°1), SPTAN (n°1), STXBP1 (n°1). – n° 4 variants were classified likely benign (7%): ARHGEF9 (n°1), TBC1D24 (n°1), SCN1A (n°1), KCNQ2 (n°1). Conclusion In about 1/4 of the cases we were able to reach a definite diagnosis. Detailed clinical information is required to interprete genetic findings. The diagnostic yield is particularly high within the group of EEs with onset in the first year of life. SCN1A, SCN2A, STXBP1 and CDKL5 show multiple mutations, providing a further confirmation on their pivotal role in the etiology of epileptic encephalopathy." @default.
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- W396841805 date "2015-05-01" @default.
- W396841805 modified "2023-09-28" @default.
- W396841805 title "OP12 – 2577: Targeted resequencing in epileptic encephalopathies: diagnostic implications and genotype–phenotype correlations" @default.
- W396841805 doi "https://doi.org/10.1016/s1090-3798(15)30013-1" @default.
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