SCA6 10 CAG repeat Genemer Control DNA
- Known as:
- SCA6 10 CAG repeat Genemer Control Desoxyribonucleic acid
- Catalog number:
- 40-2040-01
- Product Quantity:
- 500ng
- Category:
- -
- Supplier:
- Gene Link
- Gene target:
- SCA6 10 CAG repeat Genemer Control DNA
Related genes to: SCA6 10 CAG repeat Genemer Control DNA
- 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: SCA6 10 CAG repeat Genemer Control DNA
Related articles to: SCA6 10 CAG repeat Genemer Control DNA
- Familial hemiplegic migraine (FHM) is a rare and complex inherited subtype of migraine with aura, characterised by migraine with a reversible motor aura, and may present with a wide spectrum of neurological symptoms, making diagnosis particularly challenging. - Source: PubMed
Publication date: 2026/07/22
Goossens AmandineDelabie Ann-LaurenceDemaret TanguyKaradurmus DenizPignato Vincenzo - A woman in her mid-50s presented with an uncomfortable pulling sensation in the right neck that worsened with movement. This was diagnosed as cervical dystonia and treated symptomatically for several years through trials of botulinum toxin. As the years progressed, her symptoms worsened and evolved with the patient eventually experiencing debilitating ataxia requiring use of a wheelchair for mobility, severe dysphagia requiring the use of a feeding tube for nutrition and dysarthria requiring the need of a family member for translation. Through genetic testing, the patient was diagnosed with spinocerebellar ataxia-CACNA1A (SCA-CACNA1A, previously SCA6). The patient had an unusual presentation of the syndrome with dystonia having been the initial symptom, resulting in the patient failing to receive diagnostic clarification of her symptoms until 10 years after the onset of symptoms. Clinicians should consider SCA-CACNA1A in their differential diagnoses if a patient presents with dystonia of unknown aetiology. - Source: PubMed
Publication date: 2026/08/03
Deng YongjiaFletcher DavidColantonio LeaAbdulrazak AlaliPeron KristinaFrey Jessica - Prenatal alcohol exposure (PAE) can result in fetal alcohol spectrum disorder (FASD), a permanent, heterogeneous condition characterized by severe neurodevelopmental impairments with or without microcephaly, characteristic facial dysmorphology, and congenital anomalies. Clinical and pre-clinical studies suggest that genetic factors, in the mother or fetus, influence the phenotypic outcomes following PAE. The objectives of this study were to evaluate the prevalence and types of DNA copy number variants (CNVs) in children (0-18 years) diagnosed with FASD and to identify genes known to be associated with neurodevelopmental disorders. - Source: PubMed
Byrnes SuzyCollins FelicityElliott Elizabeth - Childhood absence epilepsy (CAE) is a common genetic epilepsy with a frequently complex polygenic etiology, for which a genetically tractable animal model is lacking. Current anti-seizure medications fail to address the significant neurocognitive and social comorbidities of CAE, highlighting a critical unmet need for comprehensive therapies and a better understanding of the underlying mechanisms. To address this, we developed a digenic mouse model (;, hereafter DiG) that mimics human polygenicity. The double mutant mice exhibit both absence seizures and altered social novelty preference. We found that ethosuximide, a first-line anti-CAE medication targeting thalamic low-threshold T-type calcium currents, suppressed seizures in DiG mice but failed to rescue their social deficit. Similarly, deletion of , which encodes the T-type Ca channel Ca3.1, prevented seizure generation but did not ameliorate the social deficit. These findings reveal a dissociation between the T-type current that mediates seizures and the mechanism underlying the social deficits. We further demonstrate that in mice, selective deletion of one copy of in stargazin-enriched parvalbumin (PV) interneurons induced absence seizures and impaired social behavior. Remarkably, chemogenetic activation of cortical and thalamic PV interneurons using DREADDs not only suppressed seizures but also rescued the impaired social behavior. Together, our results suggest that selective modulation of PV interneuron activity in polygenic absence epilepsy could serve as a promising therapeutic strategy to address both absence seizures, and the often treatment-resistant neurocognitive comorbidities observed in CAE. - Source: PubMed
Publication date: 2026/07/31
Miao Qing-LongOkoh JamesAsan Ahmet SKaredia SaifinaPan Jen QCosta-Mattioli MauroNoebels Jeffrey L - Absence seizures, the most common childhood epilepsy, are characterized by brief involuntary lapses in consciousness and 3-Hz spike-wave EEG discharges (SWD). Despite extensive documentation of pathogenic thalamic remodeling, the cortical circuit abnormalities driving this highly stereotyped SWD remain elusive. Using two of the best characterized mouse models of absence epilepsy carrying point mutations in distinct genes altering pre and postsynaptic transmission, stargazer ( ) and tottering ( ), we show that a specific translaminar inhibitory circuit motif defined by layer 6 corticothalamic neurons (L6 CT) and a novel Tac1 interneuron subtype is selectively disrupted in both models. This early functional defect was accompanied by a secondary synaptic collapse of deep-layer somatostatin-expressing ( ) interneurons that precisely coincides with the developmental onset of seizures. Crucially, we established the serial causality of these cascading defects by demonstrating that chemogenetic disruption of L6 CT-Tac1 circuit motif alone in wild-type mice is sufficient to induce both the secondary interneuron collapse and contemporaneous emergence of SWDs. Together, these findings reveal a sequential translaminar synaptic failure or 'domino effect' wherein a primary defect triggers broader circuit adaptations permitting spike-wave hypersynchrony. Our results thus identify a convergent, causative cortical circuit pathology that is shared by genetically heterogeneous absence epilepsy models, highlighting a common functional target for therapeutic intervention. - Source: PubMed
Publication date: 2026/07/16
Song SiyuanLau Shu-Ning NatalieTran DoanLjungberg CeciliaTang JianrongMaheshwari AtulNoebels Jeffrey LJiang Xiaolong