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X-linked Periventricular Heterotopia: Disease Bioinformatics

X-linked Periventricular Heteropopia is a disease that develops during gestation when the neurons that should normally form the cerebral cortex do not migrate and instead form clusters around the ventricles. This disease is most likely caused by a mutation on the FLNA gene on the X-chromosome. Because it is an X-linked disease, the majority of people with the disease are males; however, most males die in infancy and never present the symptoms of X-linked Periventricular Heterotopia. Despite the initial disease development occurring during gestation, the symptoms often do not present themselves until the patient is in her early teens. Symptoms of X-linked Periventricular Heterotopia include seizures, dyslexia, vascular problems and depression, among others. Fortunately, most people who have X-linked Periventricular Heterotopia have normal intelligence.

Top Research Reagents

We have 1075 products for the study of X-linked Periventricular Heterotopia that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Filamin A Antibody (4E10-1B2)
H00002316-M01
Western Blot: Filamin A Antibody (4E10-1B2) [H00002316-M01] - FLNA monoclonal antibody (M01), clone 4E10-1B2 Analysis of FLNA expression in HL-60.Immunohistochemistry-Paraffin: Filamin A Antibody (4E10-1B2) [H00002316-M01] - Analysis of monoclonal antibody to FLNA on formalin-fixed paraffin-embedded human lymphoma tissue. Antibody concentration 1.5 ug/ml.

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

14 Publications
Calcium-binding-protein-P22 Antibody
NBP1-33736
Western Blot: Calcium-binding-protein-P22 Antibody [NBP1-33736] - A. 50 ug mouse liver lysate/extract 12 % SDS-PAGEImmunocytochemistry/Immunofluorescence: Calcium-binding-protein-P22 Antibody [NBP1-33736] - HepG2 cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: Calcium binding protein P22 protein stained by Calcium binding protein P22 antibody diluted at 1:500. Blue: Hoechst 33342 staining.

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

1 Publication
Doublecortin Antibody
NBP1-72042
Western Blot: Doublecortin Antibody [NBP1-72042] - staining of Mouse fetal Brain lysate (35 ug protein in RIPA buffer). Antibody at 0.01 ug/mL. Primary incubation was 1 hour. Detected by chemiluminescence.Immunocytochemistry/Immunofluorescence: Doublecortin Antibody [NBP1-72042] - Immunofluorescence analysis of paraformaldehyde fixed KNRK cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing cytoplasmic staining. The nuclear stain is DAPI (blue). Negative control: Unimmunized goat IgG (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL).

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

5 Publications
CYREN Antibody
NBP1-82120
Western Blot: CYREN Antibody [NBP1-82120] - Analysis in control (vector only transfected HEK293T lysate) and C7orf49 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: CYREN Antibody [NBP1-82120] - Staining of human cell line U-251 MG shows localization to the Golgi apparatus. Antibody staining is shown in green.

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

LIS1 Antibody
NBP1-87769
Immunohistochemistry-Paraffin: LIS1 Antibody [NBP1-87769] - Analysis in human testis and liver tissues using NBP1-87769 antibody. Corresponding PAFAH1B1 RNA-seq data are presented for the same tissues.Western Blot: LIS1 Antibody [NBP1-87769] - Analysis of LIS1 in caco-2 whole cell lysate using anti-LIS1 antibody. Image submitted by a verified customer review.

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

     2 Reviews

ARFGEF2 Antibody
NBP1-88607
Western Blot: ARFGEF2 Antibody [NBP1-88607] - Analysis in human cell line CACO-2 and human cell line MCF-7.

Rabbit Polyclonal
Species Human
Applications WB

1 Publication
Steroid sulfatase Antibody
NBP1-90095
Immunohistochemistry-Paraffin: Steroid sulfatase Antibody [NBP1-90095] - Staining of human placenta shows high expression.Immunohistochemistry-Paraffin: Steroid sulfatase Antibody [NBP1-90095] - Staining of human pancreas shows low expression as expected.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

3 Publications
Elastin Antibody (BA-4)
NB100-2076
Western Blot: Elastin Antibody (BA-4) [NB100-2076] - Analysis of tropoelastin using the mAb BA-4 elastin antibody (NB100-2076). A: Western blot of tropoelastin purified from bovine ligamentum nuchae tissue minces. B: Autoradiogram of a gradient SDS-polyacrylamide gel showing [3H] leucine-labeled tropoelasti.Immunohistochemistry-Paraffin: Elastin Antibody (BA-4) [NB100-2076] - Formalin fixed paraffin embedded human renal cell carcinoma stained with Elastin antibody (NB100-2076)

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

     2 Reviews

11 Publications
MTSS1 Antibody
NBP2-24716
Western Blot: MTSS1 Antibody [NBP2-24716] - Analysis of MTSS1 in human testis lysate in the 1) absence and 2) presence of immunizing peptide, 3) mouse and 4) rat testis lysate using NBP2-24716 at 2 ug/ml, 4 ug/ml and 2 ug/ml, respectively.Immunohistochemistry-Paraffin: MTSS1 Antibody [NBP2-24716] - Analysis of human colon using this antibody at 10 ug/ml.

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

2 Publications
TPPP/p25 Antibody
NBP2-34031
Immunohistochemistry-Paraffin: TPPP/p25 Antibody [NBP2-34031] - Analysis in human cerebral cortex and liver tissues using NBP2-34031 antibody. Corresponding TPPP RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: TPPP/p25 Antibody [NBP2-34031] - Staining of human cerebral cortex, liver, lower gastrointestinal and pancreas using Anti-TPPP antibody NBP2-34031 (A) shows similar protein distribution across tissues to independent antibody NBP1-80962 (B).

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

1 Publication
Reelin Antibody [Unconjugated]
AF3820
Reelin was detected in immersion fixed frozen sections of mouse embryo (13 d.p.c.) using Goat Anti-Mouse Reelin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3820) at 1.7 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 Mouse
Applications WB, IHC

23 Publications
EMX2 Antibody [Unconjugated]
AF6470
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line and NIH-3T3 mouse embryonic fibroblast cell line. PVDF Membrane was probed with 1 µg/mL of Human EMX2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF6470) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (<a class=EMX2 was detected in immersion fixed paraffin-embedded sections of uterus using Sheep Anti-Human/Mouse EMX2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF6470) at 1 µg/ml overnight at 4 °C. Before incubation with the primary antibody, tissue was subjected to heat-induced epitope retrieval using VisUCyte Antigen Retrieval Reagent-Basic (Catalog # <a class=NoLineLink href=

Sheep Polyclonal
Species Human, Mouse
Applications WB, IHC

1 Publication
PLA2G7/PAF-AH/Lp-PLA2 [HRP]
DPLG70
N/A PLA2G7/PAF-AH/Lp-PLA2 [HRP]N/A PLA2G7/PAF-AH/Lp-PLA2 [HRP]


Species Human
Applications ELISA

     1 Review

14 Publications
TSC1 Antibody (OTI3A2)
NBP2-46234
Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Adenocarcinoma of Human colon tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)Immunohistochemistry: TSC1 Antibody (3A2) [NBP2-46234] - Analysis of Carcinoma of Human prostate tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

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

POLE4 Antibody
NBP2-49672
Immunohistochemistry: POLE4 Antibody [NBP2-49672] - Staining of human kidney shows strong nuclear positivity in cells in tubules.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

Calbindin D-28K Antibody
NBP2-50028
Western Blot: Calbindin D-28K Antibody [NBP2-50028] - Analysis of different tissue lysates and recombinant protein solutions using chicken pAb to calbindin, NBP2-50028, dilution 1:5,000 in green: [1] protein standard (red), [2] rat cerebellum, [3] pig hippocampus, [4] cow cerebellum, [5] protein standard (red). Next lanes are full length recombinant human proteins, [6] Parvalbumin, [7] Calretinin, [8] Calbindin. Bands at 25kDa in tissue lysates and ~30 kDa in protein solutions correspond to calbindin, the recombinant form being slightly larger due to the presence of a His tag and other vector derived sequence. NBP2-50028 antibody specifically recognizes calbindin protein and does not react with the closely related proteins parvalbumin and calretinin.Immunocytochemistry/Immunofluorescence: Calbindin D-28K Antibody [NBP2-50028] - Cultured mouse embryonic kidney stained with Calbindin antibody (1:200) and DAPI. Image from verified customer review.

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

     1 Review

13 Publications
TSC2 Antibody (SC05-59)
NBP2-67552
Western Blot: TSC2 Antibody (SC05-59) [NBP2-67552] - Western blot analysis of TSC2 on MCF-7 cell lysates. Proteins were transferred to a PVDF membrane and blocked with 5% BSA in PBS for 1 hour at room temperature. The primary antibody (1/500) was used in 5% BSA at room temperature for 2 hours. Goat Anti-RabImmunohistochemistry-Paraffin: TSC2 Antibody (SC05-59) [NBP2-67552] - Analysis of paraffin-embedded mouse placenta tissue using anti-Tuberin antibody. Counter stained with hematoxylin.

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, IHC

Myoglobin Antibody (2269B) [Unconjugated]
MAB97203
Western blot shows lysates of human heart tissue, mouse heart tissue, rat heart tissue, and human liver tissue. PVDF membrane was probed with 0.5 µg/mL of Rabbit Anti-Human Myoglobin Monoclonal Antibody (Catalog # MAB97203) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog # <a class= Myoglobin was detected in immersion fixed paraffin-embedded sections of human heart using Rabbit Anti-Human Myoglobin Monoclonal Antibody (Catalog # MAB97203) at 3 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Rabbit IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ELISA

POLD4 Antibody (2C11)
H00057804-M10
ELISA: POLD4 Antibody (2C11) [H00057804-M10] - Detection limit for recombinant GST tagged POLD4 is approximately 1ng/ml as a capture antibody.

Mouse Monoclonal
Species Human
Applications WB, ELISA

1 Publication

Related Genes

X-linked Periventricular Heterotopia has been researched against:

Related Pathways

X-linked Periventricular Heterotopia has been linked to:

Related Diseases

X-linked Periventricular Heterotopia has been studied in relation to diseases such as:

Related PTMs

X-linked Periventricular Heterotopia has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

X-linked Periventricular Heterotopia is also known as x-linked periventricular heterotopia, bilateral periventricular nodular heterotopia, bpnh, bilateral periventricular nodular heterotopia (bpnh), heterotopia periventricular x-linked dominant, nodular heterotopia bilateral periventricular, periventricular nodular heterotopia 1, periventricular heterotopia, x-linked, heterotopia familial nodular, pvnh1, nhbp.