The CleanPlex® Early Infantile Epileptic Encephalopathy Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 87 genes associated with Early Infantile Epileptic Encephalopathy.
CleanPlex® Early Infantile Epileptic Encephalopathy Panel
The CleanPlex® Early Infantile Epileptic Encephalopathy Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 87 genes associated with Early Infantile Epileptic Encephalopathy. The panel targets all the exonic regions of those genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The pre-designed panel is optimized in silico to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
This product is made to order. Once we receive your order, we will synthesize the panel and the kit will contain CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DEPDC5, DNM1, DOCK7, EEF1A2, FARS2, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB3, GABRG2, GAMT, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PIGA, PIGN, PIGO, PLCB1, PNKP, PNPO, POLG, PPT1, PRRT2, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC12A5, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SPTAN1, ST3GAL3, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TPP1, TSC1, TSC2, WDR45, WWOX
Colin et al. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. Am J Hum Genet. 2016 Sep 1;99(3):695-703.
Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am. J. Hum. Genet. 99: 287-298, 2016.
Bras et al. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am. J. Hum. Genet. 96: 474-479, 2015.
Heron et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012;44:1188–90.
Endele et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genet. 42: 1021-1026, 2010.
Siekierska et al. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. Neurology 86: 2162-2170, 2016.
Mirzaa et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013;48:367–377.
Palmer et al. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054.
|Dimensions||10 x 7 x 5 cm|
|Pack Size (Reactions)|