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Isaacs Syndrome: Disease Bioinformatics

Isaacs syndrome, also known as neurompyotonia, is a rare neuromuscular disorder caused by peripheral nerve hyperexcitability as a result of this patients often experience twitching muscles, muscle stiffness, cramping, increased sweating, and delayed muscle relaxation. The severity of Isaacs syndrome varies from being a minor inconvenience to debilitating in certain rare cases. Only 100-200 cases of Isaacs syndrome have been reported. There is no cure for Isaacs syndrome but Botox injections, Anticonvulsants, Plasma exchanges and IVIg treatments can provide short-term relief from symptoms. Immunosuppressants can provide long term relief for patients with certain forms of the disorder.

Top Research Reagents

We have 1789 products for the study of Isaacs Syndrome that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Kv1.6 Antibody
NBP3-24946
Staining of human cell line SuSa shows localization to plasma membrane & cytosol.

Rabbit Polyclonal
Species Human
Applications ICC/IF

PXMP2 Overexpression Lysate
NBL1-15012
Western Blot: PXMP2 Overexpression Lysate (Adult Normal) [NBL1-15012] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for PXMP2.


Species Human
Applications WB

CAMP/LL37/FALL39/Cathelicidin Antibody - BSA Free
NBP1-76864
Western Blot: CAMP/LL37/FALL39/Cathelicidin Antibody [NBP1-76864] - Human spleen tissue lysate with Cathelicidin antibody at 1 ug/ml.Immunocytochemistry/Immunofluorescence: CAMP/LL37/FALL39/Cathelicidin Antibody [NBP1-76864] - in Human Spleen cells.

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

3 Publications
SERCA1 ATPase Antibody (1B11)
H00000487-M01
Western Blot: SERCA1 ATPase Antibody (1B11) [H00000487-M01] - Analysis of ATP2A1 expression in transfected 293T cell line by ATP2A1 monoclonal antibody (M01), clone 1B11.Lane 1: ATP2A1 transfected lysate(109.3 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: SERCA1 ATPase Antibody (1B11) [H00000487-M01] - Analysis of monoclonal antibody to ATP2A1 on A-431 cell. Antibody concentration 10 ug/ml.

Mouse Monoclonal
Species Human
Applications WB, ELISA, ICC/IF

Caspr2 Antibody
NBP1-88182
Immunohistochemistry-Paraffin: Caspr2 Antibody [NBP1-88182] - Staining in human cerebral cortex and pancreas tissues using anti-CNTNAP2 antibody. Corresponding CNTNAP2 RNA-seq data are presented for the same tissues.Western Blot: Caspr2 Antibody [NBP1-88182] - Analysis in control (vector only transfected HEK293T lysate) and CNTNAP2 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).

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

     1 Review

1 Publication
CD69 Antibody (15B5G2) - BSA Free
NBP2-25236
Western Blot: CD69 Antibody (15B5G2) [NBP2-25236] - Analysis using Azide Free version of NBP2-25236. CD69 in A) a partial recombinant protein and B) ThP1 lysate using CD69 antibody at 0.5 ug/ml. goat anti-mouse Ig HRP secondary antibody and PicoTect ECL substrate solution were used for this test.Immunohistochemistry-Paraffin: CD69 Antibody (15B5G2) [NBP2-25236] - Human tonsil stained with CD69 antibody (2 ug/ml), peroxidase-conjugate and DAB chromogen.

Mouse Monoclonal
Species Human
Applications WB, IHC, IHC-P

     1 Review

1 Publication
Contactin-2/TAG1 Antibody [Unconjugated]
AF4439
Western blot shows lysates of human cerebellum tissue, mouse brain tissue, and rat brain tissue. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human/Mouse/Rat Contactin-2/TAG1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4439) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Contactin-2/TAG1 was detected in immersion fixed frozen sections of mouse embryo (E13) using Goat Anti-Human/Mouse/Rat Contactin-2/TAG1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4439) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

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

43 Publications
GAD1/GAD67 Antibody [Unconjugated]
AF2086
Western blot shows lysates of human brain (hypothalamus) tissue, mouse brain (total) tissue, and rat brain (total) tissue. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human/Mouse/Rat GAD1/GAD67 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2086) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody <a class=GAD1/GAD67 was detected in immersion fixed paraffin-embedded sections of human spinal cord using 15 µg/mL Goat Anti-Human/Mouse/Rat GAD1/GAD67 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2086) overnight at 4 °C. Tissue was stained with the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; <a class=

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

13 Publications
Rpn2 Antibody
NBP2-38323
Western Blot: Rpn2 Antibody [NBP2-38323] - Lane 1: Marker [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11. Lane 2: Human cell line RT-4. Lane 3: Human cell line U-251MG. Lane 4: Human Plasma. Lane 5: Human liver tissue. Lane 6: Human tonsil tissueImmunocytochemistry/Immunofluorescence: Rpn2 Antibody [NBP2-38323] - Immunofluorescent staining of human cell line U-2 OS shows localization to nucleoplasm & actin filaments.

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

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

GM-CSF [Unconjugated]
7954-GM/CF
Measured in a cell proliferation assay using TF-1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 6-30 pg/mL.


Species Human
Applications BA

3 Publications
Lgi1 Antibody (S283-7)
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

LAMC2 Antibody (CL2980)
NBP2-42388
Immunohistochemistry-Paraffin: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining in human fallopian tube and liver tissues. Corresponding LAMC2 RNA-seq data are presented for the same tissues.Western Blot: LAMC2 Antibody (CL2980) [NBP2-42388] - Analysis in A-431 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-LAMC2 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

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

4 Publications
Glutamine Synthetase Antibody
NB110-41404
Western Blot: Glutamine Synthetase Antibody [NB110-41404] - Analysis of glutamine synthase. 40ug of lysates from mouse (Lanes M), rat (Lane R), pig (Lane P), bovine (Lane B), or human (Lane Hu) retina were probed. A 42 kDa band was identified in lysates from retinas of all species.Immunocytochemistry/Immunofluorescence: Glutamine Synthetase Antibody [NB110-41404] - Immunofluorescence using NB110-41404. Submitted via verified customer review.

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

     1 Review

11 Publications
PMP22 Antibody (Hu1) - Azide and BSA Free
NBP2-80913
Immunohistochemistry: PMP22 Antibody (Hu1) - Azide and BSA Free [NBP2-80913] - Staining of PMP22 (brown) in dorsal root ganglion and spinal roots in 20 week fetal spinal cord preparation from rhesus monkey. Image from the standard format of this antibody.

Mouse Monoclonal
Species Human, Primate, Bovine (Negative)
Applications WB, IHC, IHC-P

Kv1.1 Antibody - Azide and BSA Free
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

Kv1.2 Antibody
NBP3-10293
Western Blot: Kv1.2 Antibody [NBP3-10293] - Western blot analysis of Kv1.2 in Human MCF7 Whole Cell. Antibody dilution at 1 ug/mL

Rabbit Polyclonal
Species Human
Applications WB

NMT1 Antibody
NBP3-12963
Western Blot: NMT1 Antibody [NBP3-12963] - Various whole cell extracts (30 ug) were separated by 10% SDS-PAGE, and the membrane was blotted with NMT1 antibody (NBP3-12963) diluted at 1:5000.Immunocytochemistry/Immunofluorescence: NMT1 Antibody [NBP3-12963] - NMT1 antibody detects NMT1 protein at cytoplasm by immunofluorescent analysis. Sample: HeLa cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: NMT1 protein stained by NMT1 antibody (NBP3-12963) diluted at 1:500. Blue: Hoechst 33342 staining. Scale bar = 10 um.

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


Related Genes

Isaacs Syndrome has been researched against:

Related Pathways

Isaacs Syndrome has been linked to:

Related Diseases

Isaacs Syndrome has been studied in relation to diseases such as:

Alternate Names

Isaacs Syndrome is also known as Continuous Muscle Activity Syndrome, Continuous Muscle Fiber Activity, Continuous Muscle Fibre Activity, Continuous Myokymia, Isaac Syndrome.