Hippocampus-related cognitive disorders develop in the absence of epilepsy and ataxia in the heterozygous Cacna1a mutant mice tottering
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DOI: 10.1080/19336950.2022.2072449
Abstract: ABSTRACT CACNA1A-associated epilepsy and ataxia frequently accompany cognitive impairments as devastating co-morbidities. However, it is unclear whether the cognitive deficits are consequences secondary to the neurological symptoms elicited by CACNA1A mutations. To address this issue,… read more here.
Keywords: cacna1a mutant; mutant mice; cacna1a; epilepsy ataxia ... See more keywords
Clinical and genetic characterization of CACNA1A‐related disease
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DOI: 10.1111/cge.14180
Abstract: Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. With increasing use of clinical genetic testing, associations have expanded to include developmental delay,… read more here.
Keywords: cacna1a related; disease; related disease; genetic characterization ... See more keywords
CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report
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DOI: 10.3389/fneur.2021.679354
Abstract: Background: Glucose-transporter-1 deficiency syndrome (GLUT1-DS), due to SLC2A1 gene mutation, is characterized by early-onset seizures, which are often drug-resistant, developmental delay, and hypotonia. Hemiplegic migraine (HM) is a rare form of migraine, defined by headache… read more here.
Keywords: migraine; deficiency syndrome; hemiplegic migraine; cacna1a ... See more keywords