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Myoclonic Epilepsy, Juvenile: Disease Bioinformatics

Epilepsy is defined as a diverse set of neurological disorders characterized by seizures. These seizures occur due to abnormal electrical activity in the brain. Factors that may lead to epilepsy include, but are not limited to, brain trauma, gene mutations, strokes, brain cancer, and extensive drug and alcohol use. Seizures occur due to a large release of glutamate, which causes a spread of excitation throughout the brain, which propagates the electrical signal and can lead to neuronal death. Myoclonic epilepsy is characterized by seizures that result in rapid, jerk-like movements and can affect the face, limbs, or axial musculature. Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes, absence seizures. The EFHC1 gene is an important gene associated with juvenile myoclonic epilepsy. About 50 million people have epilepsy, with 80% of that population located in developing countries. It is possible to control epilepsy with medicine, but many cases may require surgery in order to relieve symptoms.

Top Research Reagents

We have 1327 products for the study of Myoclonic Epilepsy, Juvenile that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free
NBP3-25721
Western Blot: Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free [NBP3-25721] - Whole cell extract (30 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with Thymidylate synthase antibody [HL1236] (NBP3-25721) diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Western Blot: Thymidylate Synthase Antibody (HL1236) - Azide and BSA Free [NBP3-25721] - Various whole cell extracts (30 ug) were separated by 10% SDS-PAGE, and the membrane was blotted with Thymidylate synthase antibody [HL1236] (NBP3-25721) diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

GABA-AR alpha 1 Antibody
NB300-191
Western Blot: GABA-A R alpha 1 Antibody [NB300-191] - Mouse forebrain lysates from Wild Type (WT) and alpha 1-knockout (K/O) animals showing specific immunolabeling of the -51 kDa alpha 1-subunit of the GABAA-R. The labeling was absent from a lysate prepared from alpha 1-knockout animals.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

     1 Review

11 Publications
GABA-A R gamma 2 Antibody
NB300-190
Western Blot: GABA-A R gamma 2 Antibody [NB300-190] - Mouse whole brain lysate showing specific immunolabeling of the ~46 kDa gamma-2-subunit of GABAa -R.Immunohistochemistry: GABA-A R gamma 2 Antibody [NB300-190] - Immunostaining of mouse retina showing specific labeling of the GABAa gamma-2 subunit in green, calbindin in red and DNA in blue. Photo courtesy of Dr. Arlene Hirano, UCLA.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC, KD

15 Publications
BRD2 Antibody
NBP1-30475
Western Blot: BRD2 Antibody [NBP1-30475] - Whole cell lysate (50 ug) from NIH 3T3 and TCMK-1 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-BRD2 antibody used for WB at 0.1 ug/ml. Detection:Chemiluminescence with an exposure time of 30 seconds.Immunocytochemistry/Immunofluorescence: BRD2 Antibody [NBP1-30475] - Formaldehyde-fixed asynchronous HeLa cells. Antibody: Affinity purified rabbit anti- BRD2 used at a dilution of 1:100 (2 ug/mL) (left) and rabbit anti-BRD2 recombinant monoclonal used at a dilution of 1:20 (right). Detection: Red-fluorescent goat anti-rabbit IgG cross-adsorbed Antibody DyLight 594 conjugated.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF, IHC

     1 Review

3 Publications
EFHC1 Antibody
H00114327-D01P
Western Blot: EFHC1 Antibody [H00114327-D01P] - Analysis of EFHC1 expression in mouse testis.Western Blot: EFHC1 Antibody [H00114327-D01P] - Analysis of EFHC1 expression in transfected 293T cell line by EFHC1 polyclonal antibody.Lane 1: EFHC1 transfected lysate(73.90 KDa).Lane 2: Non-transfected lysate.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF

1 Publication
Aurora A Antibody - BSA Free
NBP1-51843
Immunocytochemistry/Immunofluorescence: Aurora A Antibody [NBP1-51843] - HeLa cells were fixed and permeabilized for 10 minutes using -20C MeOH. The cells were incubated with anti- (NBP1-51843) at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Alpha tubulin (DM1A) NB100-690 was used as a co-stain at a 1:1000 dilution overnight at 4C and detected with an anti-mouse Dylight 550 (Red) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.Simple Western: Aurora A Antibody [NBP1-51843] - Simple Western lane view shows a specific band for Aurora A in 0.5 mg/ml of HeLa lysate. This experiment was performed under reducing conditions using the 12-230kDa separation system.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, Simple Western, ICC/IF

     1 Review

7 Publications
Kv7.3 Antibody
NBP1-74102
Western Blot: Kv7.3 Antibody [NBP1-74102] - Lanes: 100 ug CHO cell lysate Primary Antibody Dilution: 1 : 1000 Secondary Antibody: Goat anti-rabbit HRP Secondary Antibody Dilution: 1 : 25000 Gene name: Kcnq3 Submitted by: Anonymous.Western Blot: Kv7.3 Antibody [NBP1-74102] - Kv7.3 Antibody Titration: 1.0 ug/ml Positive Control: Mouse Heart.

Rabbit Polyclonal
Species Mouse, Hamster
Applications WB

1 Publication
ASC/TMS1 Antibody - BSA Free
NBP1-78977
Simple Western: ASC/TMS1 Antibody [NBP1-78977] - Lane view shows a specific band for ASC TMS1 in 0.5 mg/ml of MCF-7 lysate. This experiment was performed under reducing conditions using the 12-230 kDa separation system.Immunocytochemistry/Immunofluorescence: ASC/TMS1 Antibody [NBP1-78977] - NLRP3 activation was evaluated by visualizing the co-localization of NLRP3 and apoptosis-associated speck-like protein (ASC) using immunocytochemistry (A). PLoS One. 2020 Jun 17;15(6):e0234039. doi: 10.1371/journal.pone.0234039. (Catalog # NBP1-78977AF647)

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

     2 Reviews

49 Publications
POMC Antibody
NB100-1533
Immunohistochemistry: POMC Antibody [NB100-1533] - Representative confocal images of POMC in POMC-transfected WT and Sel1L-/- N2a cells. White arrows point to POMC-containing secretory granules, while yellow arrows point to perinuclear POMC. KDEL marks the ER. Representative data from at least 2 independent experiments are shown. Image collected and cropped by CiteAb from the following publication (jci.org/articles/view/96420), licensed under a CC-BY license.Flow Cytometry: POMC Antibody [NB100-1533] - Flow cytometric analysis of paraformaldehyde fixed A431 cells (blue line), permeabilized with 0.5% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (1 ug/mL). IgG control: Unimmunized goat IgG (black line) followed by Alexa Fluor 488 secondary antibody.

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

10 Publications
Cystatin B/Stefin B Antibody [Unconjugated]
AF1408
Western blot shows lysates of human colon tissue, PC-12 rat adrenal pheochromocytoma cell line, A549 human lung carcinoma cell line, and SK-BR-3 human breast cancer cell line. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human/Rat Cystatin B Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1408) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Simple Western lane view shows lysates of A549 human lung carcinoma cell line, loaded at 0.2 mg/mL. A specific band was detected for Cystatin B at approximately 18 kDa (as indicated) using 10 µg/mL of Goat Anti-Human/Rat Cystatin B Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1408) followed by 1:50 dilution of HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Rat
Applications WB, Simple Western, IHC

3 Publications
Kv7.2 Antibody
NBP2-38820
Immunocytochemistry/Immunofluorescence: Kv7.2 Antibody [NBP2-38820] - Immunofluorescent staining of human cell line SH-SY5Y shows localization to endoplasmic reticulum.Immunohistochemistry-Paraffin: Kv7.2 Antibody [NBP2-38820] - Staining of human pancreas shows low expression as expected.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

ISYNA1 Antibody
NBP2-47415
Western Blot: ISYNA1 Antibody [NBP2-47415] - Lane 1: Marker [kDa] 250, 130, 100, 70, 55, 35, 25, 15, 10<br/>Lane 2: Human cell line HEK 293Immunocytochemistry/Immunofluorescence: ISYNA1 Antibody [NBP2-47415] - Immunofluorescent staining of human cell line HEK 293 shows localization to nucleus & cytosol.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC

Nicotinic Acetylcholine R alpha 4/CHRNA4 Antibody (7B4H1) - BSA Free
NBP2-61674
Western Blot: Nicotinic Acetylcholine R alpha 4/CHRNA4 Antibody (7B4H1) [NBP2-61674] - Analysis using CHRNA4 mAb against HEK293 (1) and CHRNA4 (AA: 29-242)-hIgGFc transfected HEK293 (2) cell lysate.Flow Cytometry: Nicotinic Acetylcholine R alpha 4/CHRNA4 Antibody (7B4H1) [NBP2-61674] - Analysis using CHRNA4 mouse mAb against SH-SY5Y (1) cell lysate.

Mouse Monoclonal
Species Human
Applications WB, ELISA

Connexin 50/GJA8 Antibody
NBP2-68799
Immunocytochemistry/Immunofluorescence: Connexin 50/GJA8 Antibody [NBP2-68799] - Immunohistochemical staining of human eye shows moderate positivity in lens.Immunohistochemistry-Paraffin: Connexin 50/GJA8 Antibody [NBP2-68799] - Staining of human cerebral cortex.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

FATP4/SLC27A4 Antibody
NBP3-05510
Western Blot: FATP4/SLC27A4 Antibody [NBP3-05510] - Analysis in human cell line MCF-7.Immunocytochemistry/Immunofluorescence: FATP4/SLC27A4 Antibody [NBP3-05510] - Staining of human cell line U-2 OS shows localization to vesicles.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC

CLCN2 Antibody (3E1)
H00001181-M01
Western Blot: CLCN2 Antibody (3E1) [H00001181-M01] - Analysis of CLCN2 expression in transfected 293T cell line by CLCN2 monoclonal antibody (M01), clone 3E1.Lane 1: CLCN2 transfected lysate(96.8 KDa).Lane 2: Non-transfected lysate.Western Blot: CLCN2 Antibody (3E1) [H00001181-M01] - Analysis of CLCN2 over-expressed 293 cell line, cotransfected with CLCN2 Validated Chimera RNAi ( Cat # H00001181-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with CLCN2 monoclonal antibody (M01), clone 3E1 (Cat # H00001181-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.

Mouse Monoclonal
Species Human
Applications WB, ELISA, S-ELISA


Related Genes

Myoclonic Epilepsy, Juvenile has been researched against:

Related Pathways

Myoclonic Epilepsy, Juvenile has been linked to:

Related Diseases

Myoclonic Epilepsy, Juvenile has been studied in relation to diseases such as:

Related PTMs

Myoclonic Epilepsy, Juvenile has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Myoclonic Epilepsy, Juvenile is also known as Adolescent Myoclonic Epilepsy, Epilepsy, Juvenile Myoclonic, Janz Syndrome, Jme (juvenile Myoclonic Epilepsy), Juvenile Myoclonic Epilepsies.