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Familial Benign Neonatal Epilepsy: 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. Familial benign neonatal epilepsy is a rare autosomal dominant form of epilepsy, which is caused by mutations in the KCNQ2 and KCNQ3 genes, as well as by a chromosomal inversion. Seizures typically occur in newborns during their first seven days of life, and spontaneously stop within fifteen weeks. The child’s susceptibility to seizures is increased to 16%, compared to 2% of normal children, but there are no other side effects. 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 477 products for the study of Familial Benign Neonatal Epilepsy that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

NBP3-21449
Immunochemical staining of RPS4X in human brain formalin-fixed paraffin embedded sections with NBP3-21449 at 1:100 dilutionImmunochemical staining of RPS4X in human pancreas formalin-fixed paraffin embedded sections with NBP3-21449 at 1:100 dilution

Rabbit Polyclonal
Species Human
Applications IHC-P

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
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
NBP1-80959
Western Blot: PSMC1 Antibody [NBP1-80959] - Western blot analysis in mouse cell line NIH-3T3, rat cell line NBT-II and rat cell line pC12.Immunocytochemistry/Immunofluorescence: PSMC1 Antibody [NBP1-80959] - Staining of human cell line U-2 OS shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.

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

1 Publication
NBP1-82861
Immunocytochemistry/Immunofluorescence: Kv7.5 Antibody [NBP1-82861] - Staining of human cell line U-2 OS shows localization to vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Kv7.5 Antibody [NBP1-82861] - Staining in human cerebral cortex and pancreas tissues using anti-KCNQ5 antibody. Corresponding KCNQ5 RNA-seq data are presented for the same tissues.

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

NBP1-88191
Immunohistochemistry-Paraffin: Carbonic Anhydrase I/CA1 Antibody [NBP1-88191] - Analysis in human rectum and pancreas tissues. Corresponding CA1 RNA-seq data are presented for the same tissues.Western Blot: Carbonic Anhydrase I/CA1 Antibody [NBP1-88191] - Comparative proteome analysis of 3xTg-AD and control samples at different stages of AD. Immunoblot analysis of most regulated hits. Soluble fractions of brain proteins were analyzed from four 2-month-old control and 3xTg-AD mice animals, respectively. Hebp1 and Glo1 levels were consistently elevated in the transgenic animals as compared to wild type controls. Ca1 levels were reduced in transgenic animals. Image collected and cropped by CiteAb from the following publication (https://elifesciences.org/articles/47498), licensed under a CC-BY license.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IHC, IHC-P

3 Publications
NBP2-12897
Western Blot: Kv7.1 Antibody (S37A/10) [NBP2-12897] - Western Blot analysis of Human Cell lysates showing detection of Kv7.1 protein using Mouse Anti-Kv7.1 Monoclonal Antibody, Clone N37A/10 (NBP2-12897). Load: 15 ug. Block: 1.5% BSA for 30 minutes at RT. Primary Antibody: Mouse Anti-Kv7.1 Monoclonal Antibody (NBP2-12897) at 1:1000 for 2 hours at RT. Secondary Antibody: Sheep Anti-Mouse IgG: HRP for 1 hour at RT.Immunocytochemistry/Immunofluorescence: Kv7.1 Antibody (S37A/10) [NBP2-12897] - Immunocytochemistry/Immunofluorescence analysis using Mouse Anti-Kv7.1 Monoclonal Antibody, Clone N37A/10 (NBP2-12897). Tissue: Neuroblastoma cells (SH-SY5Y). Species: Human. Fixation: 4% PFA for 15 min. Primary Antibody: Mouse Anti-Kv7.1 Monoclonal Antibody (NBP2-12897) at 1:100 for overnight at 4C with slow rocking. Secondary Antibody: AlexaFluor 488 at 1:1000 for 1 hour at RT. Counterstain: Phalloidin-iFluor 647 (red) F-Actin stain; Hoechst (blue) nuclear stain at 1:800, 1.6mM for 20 min at RT. (A) Hoechst (blue) nuclear stain. (B) Phalloidin-iFluor 647 (red) F-Actin stain. (C) Kv7.1 Antibody (D) Composite.

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

NBP2-12899
Western Blot: Kv7.4 Antibody (S43/6) [NBP2-12899] - Western Blot analysis of Rat tissue lysate showing detection of Kv7.4 protein using Mouse Anti-Kv7.4 Monoclonal Antibody, Clone N43/6 (NBP2-12899). Load: 15 ug. Block: 1.5% BSA for 30 minutes at RT. Primary Antibody: Mouse Anti-Kv7.4 Monoclonal Antibody (NBP2-12899) at 1:1000 for 2 hours at RT. Secondary Antibody: Sheep Anti-Mouse IgG: HRP for 1 hour at RT.Immunocytochemistry/Immunofluorescence: Kv7.4 Antibody (S43/6) [NBP2-12899] - Immunocytochemistry/Immunofluorescence analysis using Mouse Anti-Kv7.4 Monoclonal Antibody, Clone N43/6 (NBP2-12899). Tissue: Neuroblastoma cells (SH-SY5Y). Species: Human. Fixation: 4% PFA for 15 min. Primary Antibody: Mouse Anti-Kv7.4 Monoclonal Antibody (NBP2-12899) at 1:100 for overnight at 4C with slow rocking. Secondary Antibody: AlexaFluor 488 at 1:1000 for 1 hour at RT. Counterstain: Phalloidin-iFluor 647 (red) F-Actin stain; Hoechst (blue) nuclear stain at 1:800, 1.6mM for 20 min at RT. (A) Hoechst (blue) nuclear stain. (B) Phalloidin-iFluor 647 (red) F-Actin stain. (C) Kv7.4 Antibody (D) Composite.

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

H00006326-Q01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

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
AF7068
Western blot shows lysates of U-87 MG human glioblastoma/astrocytoma cell line, U-118-MG human glioblastoma/astrocytoma cell line, and human brain (cortex) tissue. PVDF membrane was probed with 2 µg/mL of Sheep Anti-Human ARX Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7068) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=ARX was detected in immersion fixed U-87 MG human glioblastoma/astrocytoma cell line using Sheep Anti-Human ARX Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7068) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Sheep IgG Secondary Antibody (red, upper panel; Catalog # <a class=

Sheep Polyclonal
Species Human
Applications WB, IHC, ICC

11 Publications
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

NBP2-42190
Western Blot: Lgi1 Antibody (S283-7) [NBP2-42190] - Western Blot analysis of Rat Brain Membrane showing detection of ~60 kDa Lgi1 protein using Mouse Anti-Lgi1 Monoclonal Antibody, Clone S283-7 (NBP2-42190). Load: 10 ug. Primary Antibody: Mouse Anti-Lgi1 Monoclonal Antibody (NBP2-42190) at 1:1000 for 1 hour at RT. Secondary Antibody: Goat Anti-Mouse HRP at 1:200 for 1 hour at RT. Predicted/Observed Size: ~60 kDa.Immunocytochemistry/Immunofluorescence: Lgi1 Antibody (S283-7) [NBP2-42190] - Immunocytochemistry/Immunofluorescence analysis using Mouse Anti-Lgi1 Monoclonal Antibody, Clone S283-7 (NBP2-42190). Tissue: Neuroblastoma cells (SH-SY5Y). Species: Human. Fixation: 4% PFA for 15 min. Primary Antibody: Mouse Anti-Lgi1 Monoclonal Antibody (NBP2-42190) at 1:100 for overnight at 4C with slow rocking. Secondary Antibody: AlexaFluor 488 at 1:1000 for 1 hour at RT. Counterstain: Phalloidin-iFluor 647 (red) F-Actin stain; Hoechst (blue) nuclear stain at 1:800, 1.6mM for 20 min at RT. (A) Hoechst (blue) nuclear stain. (B) Phalloidin-iFluor 647 (red) F-Actin stain. (C) Lgi1 Antibody (D) Composite.

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

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

NBP2-82026
Western Blot: PRRT2 Antibody [NBP2-82026] - Analysis of PRRT2 in mouse brain tissue lysate with PRRT2 antibody at 1 ug/ml.Immunocytochemistry/ Immunofluorescence: PRRT2 Antibody - BSA Free [NBP2-82026] - Immunofluorescence of PRRT2 in rat brain tissue with PRRT2 antibody at 20 u/ml.

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

NBP3-03729
Immunohistochemistry: Kv1.1 Antibody [NBP3-03729] - Analysis of mouse brain using Kv1.1 antibody at dilution of 1:100. Blue: DAPI for nuclear staining.

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

NBP2-94559
Western Blot: SCN1B Antibody [NBP2-94559] - Analysis of extracts of various cell lines, using SCN1B at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit . Exposure time: 60s.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB


Related Genes

Familial Benign Neonatal Epilepsy has been researched against:

Related PTMs

Familial Benign Neonatal Epilepsy has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Familial Benign Neonatal Epilepsy is also known as Benign Familial Infantile Convulsions, Benign Familial Neonatal Convulsions, Benign Familial Neonatal Epilepsy, Benign Familial Neonatal Infantile Seizures, Benign Familial Neonatal-infantile Seizures.