CAC1A_HUMAN CACNL1A4 ELISA tesk kit
- Known as:
- CAC1A_HUMAN CACNL1A4 Enzyme-linked immunosorbent assay test tesk reagent
- Catalog number:
- gen17260
- Product Quantity:
- 1
- Category:
- Peptides
- Supplier:
- Other suppliers
- Gene target:
- CAC1A_HUMAN CACNL1A4 ELISA tesk kit
Related genes to: CAC1A_HUMAN CACNL1A4 ELISA tesk kit
- Gene:
- CACNA1A NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 A
- Previous symbol:
- CACNL1A4, SCA6, MHP1, MHP
- Synonyms:
- Cav2.1, EA2, APCA, HPCA, FHM
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1996-06-18
- Date modifiied:
- 2019-04-23
Related products to: CAC1A_HUMAN CACNL1A4 ELISA tesk kit
Related articles to: CAC1A_HUMAN CACNL1A4 ELISA tesk kit
- Short tandem repeat (STR) expansions are a major cause of neurodegenerative disorders; however, their genetic and clinical heterogeneity complicates diagnosis. STR detection remains limited in routine short-read next-generation sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical utility of computational STR genotyping in a large Turkish neurodegenerative disease cohort. ExpansionHunter was applied to NGS data from 3150 patients and 146 controls, targeting 15 disease-associated STR loci. To improve genotyping of poorly captured exonic regions in exome data, the default locus coverage threshold was reduced from 10× to 3×. Candidate expansions were visually inspected using REViewer and validated by conventional molecular methods. Computational analysis detected 28 pathogenic and 160 intermediate expansions. Of these, 23 were confirmed as pathogenic, and eight initially classified as intermediate were reclassified as pathogenic after conventional validation, resulting in 31 pathogenic cases across 28 families: ( = 8), ( = 5), ( = 4), ( = 3), ( = 3), ( = 2), and single cases in , , and . Lowering the coverage threshold markedly increased genotyping rates at low-coverage loci in exome data, particularly in . Genetic findings were largely consistent with clinical pre-diagnosis and the additional diagnostic yield was 0.95%. These findings support integrating STR analysis into routine neurogenetic diagnostics. - Source: PubMed
Publication date: 2026/05/13
Khojakulov ZakhiriddinPalvadeau Robin JKovancılar-Koç MügeAtay IrmakŞahbaz IrmakTekgül ŞeymaŞahin AyçaBadakal Esmer Zeynep DuruGül-Demirkale TuğçeÇiftçi VildanBayraktar ElifTunca CerenSmolina NataliaAkçimen FulyaBaşak Ayşe Nazlı - : Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks. While pathogenic missense variants in , , and can cause FHM or its sporadic form, they explain less than 20% of suspected hemiplegic migraine cases, suggesting the involvement of other genes or genetic variations, potentially including copy number variations (CNVs). gene variants including CNVs have also been implicated in hemiplegic migraine. : Multiplex ligation-dependent probe amplification (MLPA) assays were used to investigate the presence of CNVs in the , , , and genes in a cohort of 170 unrelated probands suspected to have FHM who had tested negative for pathogenic missense or small indel variants within these genes. Potential CNVs were subsequently confirmed using quantitative PCR. : In 15 patients referred for FHM genetic testing, various CNVs in the target genes were detected by MLPA and subsequently validated by quantitative PCR. exon duplications were identified in six patients and deletions found in two. Two patients had exon deletions, while one had a duplication. For , exon deletions were found in three patients and a duplication in one. exon deletions were detected in five patients, with a single nucleotide polymorphism (SNP) array confirming a deletion spanning and neighbouring loci including 26 genes in one of those. Three patients had CNVs in more than one FHM gene. : Our study demonstrates the presence of CNVs in FHM genes in a subset of hemiplegic migraine cases (~9%), suggesting a likely role in the disorder and highlighting the need to explore structural variation in addition to the commonly interrogated genetic mutation points. These findings contribute to further understanding of genetic mechanisms that underlie hemiplegic migraine and may inform improved diagnostic and therapeutic strategies. - Source: PubMed
Publication date: 2026/04/22
Zielke ThaisSutherland Heidi GMaksemous NevenSmith Robert AGriffiths Lyn R - This review describes current knowledge on the genetics of primary headache disorders in children and adolescents. The heritability for recurrent headache in children and adolescents is estimated at 70%, significantly higher than the heritability for both migraine and tension-type headache in adults. Hemiplegic migraine is a rare monogenic migraine subtype with causal variants identified in CACNA1A, ATP1A2, SCN1A, and PRRT. There is very limited knowledge of genetic risk variants for children and adolescents with polygenic primary headache disorders. - Source: PubMed
Publication date: 2026/05/18
Davidsen EmilieBerring-Uldum Amalie AkulenokDebes Nanette MolOlofson Isa Amalie - Hemiplegic migraine is a rare subtype of migraine characterized by reversible hemiplegia/hemiparesis as an aura symptom. Visual, sensory, and/or speech symptoms typically accompany the motor aura, followed by throbbing headache. Because motor symptoms may last for up to several weeks, this unique clinical entity can markedly impair quality of life. Familial hemiplegic migraine is caused by autosomal dominant mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes. These mutations are thought to induce neuronal hyperexcitability with resultant enhanced synaptic transmission and increased susceptibility to cortical spreading depolarization/depression. Therapeutic options remain limited, owing to the contraindication of triptans for acute treatment and the lack of established preventive therapies. However, recent evidence supports the potential efficacy of calcitonin gene-related peptide-targeting monoclonal antibodies. - Source: PubMed
Publication date: 2026/05/22
Shibata MamoruSaigoh KazumasaDanno DaisukeKitamura EijiTakizawa TsubasaKano Yuya - Thymoma is frequently associated with myasthenia gravis (MG), but the coexisting of stiff person syndrome (SPS) is exceedingly rare. This overlap syndrome poses diagnostic and therapeutic challenges, and its immunopathogenic basis is not well understood. - Source: PubMed
Publication date: 2026/05/01
Zhao LuFang LinanTang MingboZhang KeweiLiu WeiQiang Min