Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
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DOI: 10.1002/ana.24929
Abstract: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. read more here.
Keywords: ataxia due; myoclonus epilepsy; kcnc1 mutation; epilepsy ataxia ... See more keywords
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