ω-agatoxin IVA
(ω-aga IVA or omega agatoxin IVA), ω-agatoxin IVA is a blocker of Cav2.1 channel
- Known as:
- ω-agatoxin IVA
(ω-aga IVA omega agatoxin IVA), ω-agatoxin IVA a blocker Cav2.1 channel
- Catalog number:
- 11AGA001-01000
- Product Quantity:
- 1000 ug
- Category:
- -
- Supplier:
- Smartox
- Gene target:
- ω-agatoxin IVA
(ω-aga IVA omega agatoxin IVA) blocker Cav2.1 channel
Related genes to: ω-agatoxin IVA
(ω-aga IVA or omega agatoxin IVA), ω-agatoxin IVA is a blocker of Cav2.1 channel
- Gene:
- AGA NIH gene
- Name:
- aspartylglucosaminidase
- Previous symbol:
- -
- Synonyms:
- ASRG
- Chromosome:
- 4q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 1991-05-09
- Date modifiied:
- 2019-03-26
- Gene:
- COL6A4P1 NIH gene
- Name:
- collagen type VI alpha 4 pseudogene 1
- Previous symbol:
- DVWA
- Synonyms:
- VWA6, DIVA, COL6A4, COL6A4P
- Chromosome:
- 3p25.1
- Locus Type:
- pseudogene
- Date approved:
- 2009-06-12
- Date modifiied:
- 2016-01-21
- Gene:
- SIVA1 NIH gene
- Name:
- SIVA1 apoptosis inducing factor
- Previous symbol:
- -
- Synonyms:
- SIVA, Siva-1, Siva-2, CD27BP
- Chromosome:
- 14q32.33
- Locus Type:
- gene with protein product
- Date approved:
- 2006-12-05
- Date modifiied:
- 2016-02-09
Related products to: ω-agatoxin IVA
(ω-aga IVA or omega agatoxin IVA), ω-agatoxin IVA is a blocker of Cav2.1 channel
Related articles to: ω-agatoxin IVA
(ω-aga IVA or omega agatoxin IVA), ω-agatoxin IVA is a blocker of Cav2.1 channel
- Epilepsy, characterized by recurrent seizures, impacts 70-80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex. Epileptic encephalopathy (EE), an intensified form often rooted in genetic factors, is detectable through next-generation sequencing, aiding in precise diagnoses, family counseling, and potential treatment strategies. We present a case involving two sisters with refractory generalized seizures evolving into dysarthria, dysphagia, ataxia, and cognitive decline. Despite normal physical exams, abnormal electroencephalogram results consistent with epilepsy were noted. Whole Exome Sequencing identified heterozygous variants in the alanyl-tRNA synthetase (AARS) and Calcium Voltage-Gated Channel Subunit Alpha 1 (CACNA1A) genes. The AARS variant (c.C2083T, p.R695*) was maternal, while the CACNA1A variant (c.G7400C, p.R2467P) was paternal. Patients A and B exhibited a unique blend of neurological and psychiatric conditions, distinct from common disorders that begin adolescence, like Juvenile Myoclonic Epilepsy. Whole Exome Sequencing uncovered an AARS gene and CACNA1A gene, linked to various autosomal dominant phenotypes. Presence in both parents, coupled with familial reports of migraines and seizures, provides insight into accelerated symptom progression. This study underscores the importance of genetic testing in decoding complex phenotypes and emphasizes the value of documenting family history for anticipating related symptoms and future health risks. - Source: PubMed
Publication date: 2024/04/15
Romero Vanessa ISáenz SamanthaArias-Almeida BenjamínDiCapua DanielaHosomichi Kazuyoshi - CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentations with developmental delay, ataxia, intellectual disability, autism spectrum disorder, and language impairment. The severity of each disorder is also highly variable. The spectrum of CACNA1A-related seizures is broad across both loss-of-function and gain-of-function variants and includes absence seizures, focal seizures with altered consciousness, generalized tonic-clonic seizures, tonic seizures, status epilepticus, and infantile spasms. Furthermore, over half of CACNA1A-related epilepsies are refractory to current therapies. To date, almost 1700 CACNA1A variants have been reported in ClinVar, with over 400 listed as Pathogenic or Likely Pathogenic, but with limited-to-no clinical or functional data. Robust genotype-phenotype studies and impacts of variants on protein structure and function have also yet to be established. As a result, there are few definitive treatment options for CACNA1A-related epilepsies. The CACNA1A Foundation has set out to change the landscape of available and effective treatments and improve the quality of life for those living with CACNA1A-related disorders, including epilepsy. Established in March 2020, the Foundation has built a robust preclinical toolbox that includes patient-derived induced pluripotent stem cells and novel disease models, launched clinical trial readiness initiatives, and organized a global CACNA1A Research Network. This Research Network is currently composed of over 60 scientists and clinicians committed to collaborating to accelerate the path to CACNA1A-specific treatments and one day, a cure. - Source: PubMed
Publication date: 2024/04/25
Fox Pangkong MMalepati SunithaManaster LisaRossignol ElsaNoebels Jeffrey L - Congenital ataxias are rare hereditary disorders characterized by hypotonia and developmental motor delay in the first few months of life, followed by cerebellar ataxia in early childhood. The course of the disease is predominantly nonprogressive, and many patients are incorrectly diagnosed with cerebral palsy. Despite significant advancements in next-generation sequencing in the past few decades, a specific genetic diagnosis is seldom obtained in cases of congenital ataxia. The aim of the study was to analyze the clinical, radiologic, and genetic features of a cohort of Brazilian patients with congenital ataxia. - Source: PubMed
Publication date: 2024/04/23
Raslan Ivana RSilva Thiago Yoshinaga TonholoKok FernandoRodrigues Marcelo MAragão Marcelo MPinho Ricardo SFrança Marcondes CBarsottini Orlando GPedroso José Luiz - Migraine is a severe, debilitating neurovascular disorder. Hemiplegic migraine (HM) is a rare and debilitating neurological condition with a strong genetic basis. Sequencing technologies have improved the diagnosis and our understanding of the molecular pathophysiology of HM. Linkage analysis and sequencing studies in HM families have identified pathogenic variants in ion channels and related genes, including , , and , that cause HM. However, approximately 75% of HM patients are negative for these mutations, indicating there are other genes involved in disease causation. In this review, we explored our current understanding of the genetics of HM. The evidence presented herein summarises the current knowledge of the genetics of HM, which can be expanded further to explain the remaining heritability of this debilitating condition. Innovative bioinformatics and computational strategies to cover the entire genetic spectrum of HM are also discussed in this review. - Source: PubMed
Publication date: 2024/03/31
Alfayyadh Mohammed MMaksemous NevenSutherland Heidi GLea Rod AGriffiths Lyn R - Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource's (ClinGen's) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen's BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders. - Source: PubMed
Publication date: 2024/04/17
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