Severity Assessment in CDKL5 Deficiency Disorder

Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances. This disorder is a relatively common genetic cause of early-life epilepsy.

A specific severity assessment is lacking, required to monitor the clinical course and needed to define the natural history and for clinical trial readiness.A severity assessment was developed based on clinical and research experience from the International Foundation for CDKL5 Research Centers of Excellence consortium and the National Institutes of Health Rett and Rett-Related Disorders Natural History Study consortium.

An initial draft severity assessment was presented and reviewed at the annual CDKL5 Forum meeting (Boston, 2017). Subsequently it was iterated through four cycles of a modified Delphi process by a group of clinicians, researchers, industry, patient advisory groups, and parents familiar with this disorder until consensus was achieved.

AIM-100

A3148-100 100 mg
EUR 1859.00
Description: AIM-100 is a small inhibitor of Ack1 tyrosine kinase with IC50 value of 24 nM [1]. AIM-100 mimicked ATP and inhibited the activity of Ack1 significantly and specifically.

LB-100

B4846-100 100 mg
EUR 860.00

MTBK_20640-100

AR02-P0011-100 100ug
EUR 1133.00

Etoposide (100 mM)

1043-100
EUR 153.00

S-100 Antibody

3958-100
EUR 316.00

rIgG FRET 100

RI1015-100 1 Kit
EUR 212.00

hAlbumin FRET 100

AH1005-100 1 Kit
EUR 212.00

hAlbumin TRF 100

AHTR1005-100 1 Kit
EUR 239.00

hCRP FRET 100

CH1008-100 1 Kit
EUR 212.00

hCRP TRF 100

CHTR1008-100 1 Kit
EUR 239.00

hIgG TRF 100

HITR1011-100 1 Kit
EUR 239.00

hInsulin FRET 100

IH1010-100 1 Kit
EUR 212.00

hInsulin TRF 100

IHTR1010-100 1 Kit
EUR 239.00

CD1b(100-1A5) Antibody

BNC051044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF405M conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC041044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF405S conjugate, Concentration: 0.1mg/mL

ATP Solution (100 mM)

2121-100
EUR 126.00

PBS Tablets (100 ml)

2865-100
EUR 164.00

FUNNEL, 100 MM, PP

6120P-100 12/pk
EUR 47.00
Description: Reusable Plastics; Reusable Funnels

CD1b(100-1A5) Antibody

BNC401044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF640R conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC431044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF543 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC471044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF647 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC551044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF555 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC611044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF660R conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC681044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF568 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC701044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF770 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC801044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF680 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC811044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF680R conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC881044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF488A conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNC941044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), CF594 conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNCAP1044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNCB1044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), Biotin conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNCH1044-100 100uL
EUR 199.00
Description: Primary antibody against CD1b(100-1A5), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

CD1b(100-1A5) Antibody

BNUB1044-100 100uL
EUR 209.00
Description: Primary antibody against CD1b(100-1A5), Concentration: 0.2mg/mL

GFP Antibody, 100 uL

P601-100 NULL
EUR NULL

100 BlotBot Reagent Reservoirs

RRVR-100 100pack
EUR 177.00
Description: BlotBot reagent reservoirs will allow dispensing of unique reagents during processing. Pack of 100.

Mouse IgM FRET 100

IM1009-100 1 Kit
EUR 212.00

Mouse IgG FRET 100

MIG1012-100 1 Kit
EUR 212.00

Rv0351 (GrpE)-100

AR02-P0003-100 100ug
EUR 266.00

Rv1009 (RpfB)-100

AR02-P0006-100 100ug
EUR 1133.00

Rv2450c (RpfE)-100

AR02-P0007-100 100ug
EUR 1133.00

Rv3875 (esxA)-100

AR02-P0008-100 100ug
EUR 1133.00

Rv2031c(HspX)-100

AR02-P0009-100 100ug
EUR 1133.00

Rv3131 (NfnB)-100

AR02-P0010-100 100ug
EUR 1133.00

Biotin TRF 100

BTTR-1006-100 1 Kit
EUR 239.00

100 bp DNA Ladder (100 bp ~ 1,500 bp, with loading dye)

W0636-100 NULL
EUR NULL

bcl-2(100/D5) Antibody

BNC050045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF405M conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC040045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF405S conjugate, Concentration: 0.1mg/mL

ERLENMEYER FLASK, 100 ML, PP

4985P-100 6/pk
EUR 54.00
Description: Reusable Plastics; Reusable Erl Flasks

ERLENMEYER FLASK, 100 ML, PMP

4990P-100 6/pk
EUR 57.00
Description: Reusable Plastics; Reusable Erl Flasks

bcl-2(100/D5) Antibody

BNC400045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF640R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC430045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF543 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC470045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF647 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC550045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF555 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC610045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF660R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC680045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF568 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC700045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF770 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC800045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF680 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC810045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF680R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC880045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF488A conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNC940045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), CF594 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNCAP0045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNCB0045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), Biotin conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNCH0045-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5) Antibody

BNUB0045-100 100uL
EUR 209.00
Description: Primary antibody against bcl-2(100/D5), Concentration: 0.2mg/mL

Triton® X-100 Detergent

B2394-100
EUR 109.00

S-100?? Protein, Bovine Brain

P1275-100
EUR 403.00

Reflex Clips, 7mm , 100/Pk

LC1001-100 100/pk
EUR 147.00

Bridge-It cAMP-PDE 100

PD1007-100 1 Kit
EUR 239.00

Rv2769c (PE27 protein)-100

AR02-P0001-100 100ug
EUR 479.00

2.5x12 cellogel 250µ (100)

EHCA1200-ST01-100 ea
EUR 87.00

2.5x17 cellogel 200µ (100)

EHCA1200-ST12-100 ea
EUR 123.00

4x17 cellogel 250µ (100)

EHCA1200-ST21-100 ea
EUR 169.00

4x17 cellogel 200µ (100)

EHCA1200-ST22-100 ea
EUR 169.00

5.7x14 cellogel 250µ (100)

EHCA1200-ST36-100 ea
EUR 160.00

5.7x14 cellogel 200µ (100)

EHCA1200-ST37-100 ea
EUR 160.00

5.7x17 cellogel 250µ (100)

EHCA1200-ST77-100 ea
EUR 223.00

bcl-2(100/D5 + 124) Antibody

BNC051234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF405M conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC041234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF405S conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC401234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF640R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC431234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF543 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC471234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF647 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC551234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF555 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC611234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF660R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC681234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF568 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC701234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF770 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC801234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF680 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC811234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF680R conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC881234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF488A conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNC941234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), CF594 conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNCAP1234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNCB1234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), Biotin conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNCH1234-100 100uL
EUR 199.00
Description: Primary antibody against bcl-2(100/D5 + 124), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

bcl-2(100/D5 + 124) Antibody

BNUB1234-100 100uL
EUR 209.00
Description: Primary antibody against bcl-2(100/D5 + 124), Concentration: 0.2mg/mL

Sodium Pyruvate Solution, 100 mM Solution

CCM1753-100 100 mL
EUR 60.84
  • Product category: Culture Media

Microscope Slide Boxes,100-Place, Blue

LC7002-100 100/CS
EUR 806.00

Microscope Slide Boxes,100-Place, Green

LC7003-100 100/CS
EUR 806.00

Microscope Slide Boxes,100-Place, Red

LC7004-100 100/CS
EUR 806.00

Microscope Slide Boxes,100-Place, Yellow

LC7005-100 100/CS
EUR 806.00

Microscope Slide Boxes,100-Place, White

LC7006-100 100/CS
EUR 806.00

MTBK 20620 (PE protein)-100

AR02-P0005-100 100ug
EUR 1414.00

2.5x14 cellogel 190µ hr (100)

EHCA1200-ST08-100 ea
EUR 105.00

2.5x17 cellogel 190µ hr (100)

EHCA1200-ST13-100 ea
EUR 123.00

4x17 cellogel 190µ hr (100)

EHCA1200-ST23-100 ea
EUR 169.00

5.7x14 cellogel 190µ hr (100)

EHCA1200-ST38-100 ea
EUR 160.00

Sodium Chloride tablets 100 ml

09-9103-100 100 ml
EUR 73.00

Deacetylase Inhibitor Cocktail (100× in 70% DMSO)

K1017-100 100x1 ml
EUR 1163.00

Bcl-2 Antibody (Clone Bcl-2/100)

3195-100
EUR 359.00

QuantiChrom? LDH Cytotoxicity Assay Kit (C2LD-100)

C2LD-100 100
EUR 127.43
  • Sample volume: 50-100ul
  • Detection wavelength: 450nm
  • Assay performance time: 1 to 4 hours.
Description: Quantitative determination of cytotoxicity based on cellular lactate dehydrogenase release into cell culture medium by colorimetric (565nm) method. Procedure: 30 min. Kit size: 100 tests. Detection limit: 2 U/L. Shelf life: 6 months. Shipping: ambient tem

Meat sample spatulas (individually wrapped) 100/pk

MSSW-100 1 pk
EUR 61.00

Universal DNA Marker (100 bp ~ 10,000 bp)

W2583-100 NULL
EUR NULL

DiagNano Fluorophore Labeled Gold Nanoparticles, 100 nm

GFL-100 1 mL
EUR 1053.00

Rv0350 (Heat Shock Protein 70)-100

AR02-P0002-100 100ug
EUR 277.00

Rv2299c (Heat Shock Protein 90)-100

AR02-P0004-100 100ug
EUR 351.00

2.5x13 cellogel 200µ practiga punched (100)

EHCA1200-ST11-100 ea
EUR 123.00

5.7x14 cellogel 200µ pratiga punched (100)

EHCA1200-ST43-100 ea
EUR 169.00

5.7x14.5 cellogel 200µ beckman punched (100)

EHCA1200-ST53-100 ea
EUR 169.00

Triton® X-100, MegaPure? Detergent, 10% Solution

2124-100
EUR 191.00

DiagNano Gold Nanoparticle Passive Conjugation Kit, 100 nm

GPK-100 1 kit
EUR 715.00

Solution Basin,100 ml Sterile Polystyrene,10/pk

LC2005-100 100/CS
EUR 246.00

PTPRF(His tagged) / LAR(His tagged)-100

AR09-P0002-100 100ug
EUR 718.00

Total RNA Plus Mini Kit (100 prep)

FATRK-P-100 100 preps
EUR 242.00

Triton® X-100 Solution (10% in H?O)

2104-100
EUR 137.00

Single channel mini-pipette (130 mm) 100 ul, autoclavable

SCMP-100 1
EUR 92.00

Cell Strainer, 100 µm, Sterile, Individually Wrapped, Nylon Mesh

LC3070-100 100/CS
EUR 219.00

CryoSolutions 100%

AK8899-0005 5mL Ask for price

CryoSolutions 100%

AK8899-0010 10mL Ask for price

CryoSolutions 100%

AK8899-0030 30mL Ask for price

CryoSolutions 100%

AK8899-0100 100mL Ask for price

AIM-100

A3148-10 10 mg
EUR 267.00
Description: AIM-100 is a small inhibitor of Ack1 tyrosine kinase with IC50 value of 24 nM [1]. AIM-100 mimicked ATP and inhibited the activity of Ack1 significantly and specifically.

AIM-100

A3148-5 5 mg
EUR 231.00
Description: AIM-100 is a small inhibitor of Ack1 tyrosine kinase with IC50 value of 24 nM [1]. AIM-100 mimicked ATP and inhibited the activity of Ack1 significantly and specifically.

AIM-100

A3148-50 50 mg
EUR 991.00
Description: AIM-100 is a small inhibitor of Ack1 tyrosine kinase with IC50 value of 24 nM [1]. AIM-100 mimicked ATP and inhibited the activity of Ack1 significantly and specifically.

ARP 100

A4432-10 10 mg
EUR 261.00
Description: ARP 100 is a selective inhibitor of matrix metalloproteinases 2 (MMP-2) with IC50 value of 12 nM [1].

ARP 100

A4432-5 5 mg
EUR 166.00
Description: ARP 100 is a selective inhibitor of matrix metalloproteinases 2 (MMP-2) with IC50 value of 12 nM [1].

LB-100

B2031-25
EUR 588.00

LB-100

B2031-5
EUR 185.00

LB-100

B4846-25 25 mg
EUR 438.00

LB-100

B4846-5 5 mg
EUR 171.00

pEarleyGate 100

PVT12182 2 ug
EUR 703.00

SW-100

HY-115475 10mM/1mL
EUR 366.00

HA-100

HY-100984 10mM/1mL
EUR 141.00

AIM-100

HY-15290 10mM/1mL
EUR 201.00

TritonX-100

T9500-010 100ml
EUR 77.00

S-100

MO47059 100 ul
EUR 349.00

slingshot homolog 1 (SSH1)(MBP-his tagged)-100

AR09-P0023-100 100ug
EUR 8007.00

slingshot homolog 3 (SSH3)(MBP-his tagged)-100

AR09-P0024-100 100ug
EUR 1182.00

RESERVOIR, POLYPROPYLENE, 100 ML, V-BOTTOM, NONSTERILE, BULK

RES-V-100 25/pk
EUR 67.00
Description: Reservoirs; Reservoirs - Axygen

Phosphate Buffered Saline (PBS) pH 7.4, 100 ml

09-2051-100 100 ml
EUR 75.00

Carbonate-bicarbonate Coating buffer pH 9.6, 100 ml

09-8922-100 100 ml
EUR 108.00

miRZip-100 anti-miR-100 microRNA construct

MZIP100-PA-1 Bacterial Streak
EUR 684.00
  • Category: MicroRNA Tools

Mouse pre-microRNA Expression Construct mir-100

MMIR-100-PA-1 Bacterial Streak
EUR 684.00
  • Category: MicroRNA Tools

The revised version of the severity assessment was presented for review, comment, and piloting to families at the International Foundation for CDKL5 Research-sponsored family meeting (Colorado, 2018). Final revisions were based on this additional input.

The final severity assessment comprised 51 items that comprehensively describe domains of epilepsy; motor; cognition, behavior, vision, and speech; and autonomic functions. Parental ratings of therapy effectiveness and child and family functioning are also included.

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. The consensus methods employed for the development of severity assessment may be applicable to similar rare disorders.

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