Is CANCA1a associted with diseases?
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CACNA1A is indeed associated with various diseases. Pathogenic variants in the CACNA1A gene have been linked to episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia 6, developmental delay, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders . Additionally, CACNA1A variants have been connected to a broad spectrum of phenotypes, ranging from episodic or progressive ataxia to more complex ataxia syndromes, intellectual disability, and epilepsy . Furthermore, CACNA1C variants have been associated with multiple neuropsychiatric disorders, with strong implications for schizophrenia and bipolar disorder, suggesting shared risk and pathophysiology among these conditions . Overall, these findings highlight the diverse disease manifestations linked to CACNA1A and CACNA1C, emphasizing the importance of understanding genotype-phenotype correlations for prognosis and potential therapeutic interventions.
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| Papers (5) | Insight |
|---|---|
158 Citations | Yes, CACNA1A haploinsufficiency is associated with cognitive impairment, autism, epileptic encephalopathy, and mild cerebellar symptoms, as indicated in the research paper. |
1 Citations | Yes, CACNA1C variants are associated with multiple neuropsychiatric disorders, including schizophrenia, bipolar disorder, and others, suggesting a pleiotropic role in these conditions. |
27 Nov 2020 | Yes, CANCA1a, also known as CRIP1a, is associated with various diseases including schizophrenia, cancer subtypes, and regulation of sensory systems, suggesting a role in health and disease. |
5 Citations | Yes, CACNA1A gene is associated with episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia 6, developmental delay, epilepsy, paroxysmal dystonia, and neuropsychiatric disorders. |
10 Citations | Yes, CACNA1A is associated with episodic ataxia type 2, familial hemiplegic migraine type 1, spinocerebellar ataxia type 6, and a broader spectrum of neurogenetic phenotypes. |
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